nsv4730049
- Organism: Homo sapiens
- Study:nstd198 (Hanlon et al. 2021)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:26
- Validation:Not tested
- Clinical Assertions: No
- Region Size:6,050
- Publication(s):Hanlon et al. 2021
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 160 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 160 SVs from 43 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4730049 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 107,417,248 | 107,423,297 | ||
| nsv4730049 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 107,057,693 | 107,063,742 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv16257638 | inversion | SAMN00001695 | Sequencing | Genotyping | Homozygous | 368 |
| nssv16256047 | inversion | SAMN00006580 | Sequencing | Genotyping | Homozygous | 344 |
| nssv16256870 | inversion | HG00514 | Sequencing | Genotyping | Homozygous | 338 |
| nssv16257620 | inversion | SAMN00006581 | Sequencing | Genotyping | Homozygous | 348 |
| nssv16257858 | inversion | SAMN00006579 | Sequencing | Genotyping | Homozygous | 303 |
| nssv16258180 | inversion | SAMN00006580 | Sequencing | Genotyping | Homozygous | 344 |
| nssv16258182 | inversion | HG00514 | Sequencing | Genotyping | Homozygous | 338 |
| nssv16258193 | inversion | SAMN00006581 | Sequencing | Genotyping | Homozygous | 348 |
| nssv16258708 | inversion | SAMN00006579 | Sequencing | Genotyping | Homozygous | 303 |
| nssv16257978 | inversion | SAMN00006581 | Sequencing | Genotyping | Homozygous | 348 |
| nssv16258852 | inversion | SAMN00006581 | Sequencing | Genotyping | Homozygous | 348 |
| nssv16257005 | inversion | HG00514 | Sequencing | Genotyping | Homozygous | 338 |
| nssv16257600 | inversion | HG00514 | Sequencing | Genotyping | Homozygous | 338 |
| nssv16256854 | inversion | HG00512 | Sequencing | Genotyping | Homozygous | 328 |
| nssv16257771 | inversion | HG00512 | Sequencing | Genotyping | Homozygous | 328 |
| nssv16258849 | inversion | HG00512 | Sequencing | Genotyping | Homozygous | 328 |
| nssv16258192 | inversion | SAMN00006580 | Sequencing | Genotyping | Homozygous | 344 |
| nssv16255874 | inversion | SAMN00001696 | Sequencing | Genotyping | Homozygous | 349 |
| nssv16257851 | inversion | SAMN00001696 | Sequencing | Genotyping | Homozygous | 349 |
| nssv16258206 | inversion | SAMN00001696 | Sequencing | Genotyping | Homozygous | 349 |
| nssv16256461 | inversion | SAMN00006466 | Sequencing | Genotyping | Homozygous | 335 |
| nssv16257239 | inversion | SAMN00006466 | Sequencing | Genotyping | Homozygous | 335 |
| nssv16257721 | inversion | SAMN00006466 | Sequencing | Genotyping | Homozygous | 335 |
| nssv16258891 | inversion | SAMN00006466 | Sequencing | Genotyping | Homozygous | 335 |
| nssv16256814 | inversion | SAMN00001695 | Sequencing | Genotyping | Homozygous | 368 |
| nssv16257082 | inversion | SAMN00001695 | Sequencing | Genotyping | Homozygous | 368 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16257638 | Submitted genomic | NC_000007.14:g.107 417248_107422367in v | GRCh38 (hg38) | NC_000007.14 | Chr7 | 107,417,248 | 107,422,367 | ||
| nssv16256047 | Submitted genomic | NC_000007.14:g.107 418031_107423297in v | GRCh38 (hg38) | NC_000007.14 | Chr7 | 107,418,031 | 107,423,297 | ||
| nssv16256870 | Submitted genomic | NC_000007.14:g.107 418031_107423297in v | GRCh38 (hg38) | NC_000007.14 | Chr7 | 107,418,031 | 107,423,297 | ||
| nssv16257620 | Submitted genomic | NC_000007.14:g.107 418031_107423297in v | GRCh38 (hg38) | NC_000007.14 | Chr7 | 107,418,031 | 107,423,297 | ||
| nssv16257858 | Submitted genomic | NC_000007.14:g.107 418031_107423297in v | GRCh38 (hg38) | NC_000007.14 | Chr7 | 107,418,031 | 107,423,297 | ||
| nssv16258180 | Submitted genomic | NC_000007.14:g.107 418031_107423297in v | GRCh38 (hg38) | NC_000007.14 | Chr7 | 107,418,031 | 107,423,297 | ||
| nssv16258182 | Submitted genomic | NC_000007.14:g.107 418031_107423297in v | GRCh38 (hg38) | NC_000007.14 | Chr7 | 107,418,031 | 107,423,297 | ||
| nssv16258193 | Submitted genomic | NC_000007.14:g.107 418031_107423297in v | GRCh38 (hg38) | NC_000007.14 | Chr7 | 107,418,031 | 107,423,297 | ||
| nssv16258708 | Submitted genomic | NC_000007.14:g.107 418031_107423297in v | GRCh38 (hg38) | NC_000007.14 | Chr7 | 107,418,031 | 107,423,297 | ||
| nssv16257978 | Submitted genomic | NC_000007.14:g.107 418771_107422689in v | GRCh38 (hg38) | NC_000007.14 | Chr7 | 107,418,771 | 107,422,689 | ||
| nssv16258852 | Submitted genomic | NC_000007.14:g.107 418771_107422689in v | GRCh38 (hg38) | NC_000007.14 | Chr7 | 107,418,771 | 107,422,689 | ||
| nssv16257005 | Submitted genomic | NC_000007.14:g.107 418787_107422418in v | GRCh38 (hg38) | NC_000007.14 | Chr7 | 107,418,787 | 107,422,418 | ||
| nssv16257600 | Submitted genomic | NC_000007.14:g.107 418787_107422418in v | GRCh38 (hg38) | NC_000007.14 | Chr7 | 107,418,787 | 107,422,418 | ||
| nssv16256854 | Submitted genomic | NC_000007.14:g.107 418904_107422548in v | GRCh38 (hg38) | NC_000007.14 | Chr7 | 107,418,904 | 107,422,548 | ||
| nssv16257771 | Submitted genomic | NC_000007.14:g.107 418904_107422548in v | GRCh38 (hg38) | NC_000007.14 | Chr7 | 107,418,904 | 107,422,548 | ||
| nssv16258849 | Submitted genomic | NC_000007.14:g.107 418904_107422548in v | GRCh38 (hg38) | NC_000007.14 | Chr7 | 107,418,904 | 107,422,548 | ||
| nssv16258192 | Submitted genomic | NC_000007.14:g.107 418964_107421714in v | GRCh38 (hg38) | NC_000007.14 | Chr7 | 107,418,964 | 107,421,714 | ||
| nssv16255874 | Submitted genomic | NC_000007.14:g.107 418964_107422689in v | GRCh38 (hg38) | NC_000007.14 | Chr7 | 107,418,964 | 107,422,689 | ||
| nssv16257851 | Submitted genomic | NC_000007.14:g.107 418964_107422689in v | GRCh38 (hg38) | NC_000007.14 | Chr7 | 107,418,964 | 107,422,689 | ||
| nssv16258206 | Submitted genomic | NC_000007.14:g.107 418964_107422689in v | GRCh38 (hg38) | NC_000007.14 | Chr7 | 107,418,964 | 107,422,689 | ||
| nssv16256461 | Submitted genomic | NC_000007.14:g.107 419636_107421467in v | GRCh38 (hg38) | NC_000007.14 | Chr7 | 107,419,636 | 107,421,467 | ||
| nssv16257239 | Submitted genomic | NC_000007.14:g.107 419636_107421467in v | GRCh38 (hg38) | NC_000007.14 | Chr7 | 107,419,636 | 107,421,467 | ||
| nssv16257721 | Submitted genomic | NC_000007.14:g.107 419636_107421467in v | GRCh38 (hg38) | NC_000007.14 | Chr7 | 107,419,636 | 107,421,467 | ||
| nssv16258891 | Submitted genomic | NC_000007.14:g.107 419636_107421467in v | GRCh38 (hg38) | NC_000007.14 | Chr7 | 107,419,636 | 107,421,467 | ||
| nssv16256814 | Submitted genomic | NC_000007.14:g.107 419751_107422537in v | GRCh38 (hg38) | NC_000007.14 | Chr7 | 107,419,751 | 107,422,537 | ||
| nssv16257082 | Submitted genomic | NC_000007.14:g.107 419751_107422537in v | GRCh38 (hg38) | NC_000007.14 | Chr7 | 107,419,751 | 107,422,537 | ||
| nssv16257638 | Remapped | Perfect | NC_000007.13:g.107 057693_107062812in v | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 107,057,693 | 107,062,812 |
| nssv16256047 | Remapped | Perfect | NC_000007.13:g.107 058476_107063742in v | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 107,058,476 | 107,063,742 |
| nssv16256870 | Remapped | Perfect | NC_000007.13:g.107 058476_107063742in v | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 107,058,476 | 107,063,742 |
| nssv16257620 | Remapped | Perfect | NC_000007.13:g.107 058476_107063742in v | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 107,058,476 | 107,063,742 |
| nssv16257858 | Remapped | Perfect | NC_000007.13:g.107 058476_107063742in v | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 107,058,476 | 107,063,742 |
| nssv16258180 | Remapped | Perfect | NC_000007.13:g.107 058476_107063742in v | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 107,058,476 | 107,063,742 |
| nssv16258182 | Remapped | Perfect | NC_000007.13:g.107 058476_107063742in v | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 107,058,476 | 107,063,742 |
| nssv16258193 | Remapped | Perfect | NC_000007.13:g.107 058476_107063742in v | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 107,058,476 | 107,063,742 |
| nssv16258708 | Remapped | Perfect | NC_000007.13:g.107 058476_107063742in v | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 107,058,476 | 107,063,742 |
| nssv16257978 | Remapped | Perfect | NC_000007.13:g.107 059216_107063134in v | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 107,059,216 | 107,063,134 |
| nssv16258852 | Remapped | Perfect | NC_000007.13:g.107 059216_107063134in v | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 107,059,216 | 107,063,134 |
| nssv16257005 | Remapped | Perfect | NC_000007.13:g.107 059232_107062863in v | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 107,059,232 | 107,062,863 |
| nssv16257600 | Remapped | Perfect | NC_000007.13:g.107 059232_107062863in v | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 107,059,232 | 107,062,863 |
| nssv16256854 | Remapped | Perfect | NC_000007.13:g.107 059349_107062993in v | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 107,059,349 | 107,062,993 |
| nssv16257771 | Remapped | Perfect | NC_000007.13:g.107 059349_107062993in v | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 107,059,349 | 107,062,993 |
| nssv16258849 | Remapped | Perfect | NC_000007.13:g.107 059349_107062993in v | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 107,059,349 | 107,062,993 |
| nssv16258192 | Remapped | Perfect | NC_000007.13:g.107 059409_107062159in v | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 107,059,409 | 107,062,159 |
| nssv16255874 | Remapped | Perfect | NC_000007.13:g.107 059409_107063134in v | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 107,059,409 | 107,063,134 |
| nssv16257851 | Remapped | Perfect | NC_000007.13:g.107 059409_107063134in v | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 107,059,409 | 107,063,134 |
| nssv16258206 | Remapped | Perfect | NC_000007.13:g.107 059409_107063134in v | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 107,059,409 | 107,063,134 |
| nssv16256461 | Remapped | Perfect | NC_000007.13:g.107 060081_107061912in v | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 107,060,081 | 107,061,912 |
| nssv16257239 | Remapped | Perfect | NC_000007.13:g.107 060081_107061912in v | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 107,060,081 | 107,061,912 |
| nssv16257721 | Remapped | Perfect | NC_000007.13:g.107 060081_107061912in v | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 107,060,081 | 107,061,912 |
| nssv16258891 | Remapped | Perfect | NC_000007.13:g.107 060081_107061912in v | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 107,060,081 | 107,061,912 |
| nssv16256814 | Remapped | Perfect | NC_000007.13:g.107 060196_107062982in v | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 107,060,196 | 107,062,982 |
| nssv16257082 | Remapped | Perfect | NC_000007.13:g.107 060196_107062982in v | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 107,060,196 | 107,062,982 |