nsv4730272
- Organism: Homo sapiens
- Study:nstd198 (Hanlon et al. 2021)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:14
- Validation:Not tested
- Clinical Assertions: No
- Region Size:11,619
- 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: 401 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 398 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 28 SVs from 13 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4730272 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 76,141,674 | 76,153,292 | ||
| nsv4730272 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 75,361,509 | 75,373,127 |
| nsv4730272 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871100.1 | ChrX|NW_00 3871100.1 | 161,094 | 172,712 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv16256165 | inversion | SAMN00006580 | Sequencing | Genotyping | Homozygous | 344 |
| nssv16256404 | inversion | SAMN00001694 | Sequencing | Genotyping | Heterozygous | 340 |
| nssv16257162 | inversion | SAMN00006580 | Sequencing | Genotyping | Homozygous | 344 |
| nssv16257510 | inversion | SAMN00001694 | Sequencing | Genotyping | Heterozygous | 340 |
| nssv16258445 | inversion | SAMN00001694 | Sequencing | Genotyping | Heterozygous | 340 |
| nssv16256236 | inversion | SAMN00006579 | Sequencing | Genotyping | Hemizygous | 303 |
| nssv16258252 | inversion | SAMN00006579 | Sequencing | Genotyping | Hemizygous | 303 |
| nssv16258516 | inversion | SAMN00006579 | Sequencing | Genotyping | Hemizygous | 303 |
| nssv16256201 | inversion | SAMN00006580 | Sequencing | Genotyping | Homozygous | 344 |
| nssv16257993 | inversion | SAMN00006580 | Sequencing | Genotyping | Homozygous | 344 |
| nssv16256972 | inversion | SAMN00006581 | Sequencing | Genotyping | Homozygous | 348 |
| nssv16257453 | inversion | SAMN00006581 | Sequencing | Genotyping | Homozygous | 348 |
| nssv16258000 | inversion | SAMN00006581 | Sequencing | Genotyping | Homozygous | 348 |
| nssv16258406 | inversion | SAMN00006581 | Sequencing | Genotyping | Homozygous | 348 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16256165 | Submitted genomic | NC_000023.11:g.761 41674_76153292inv | GRCh38 (hg38) | NC_000023.11 | ChrX | 76,141,674 | 76,153,292 | ||
| nssv16256404 | Submitted genomic | NC_000023.11:g.761 41674_76153292inv | GRCh38 (hg38) | NC_000023.11 | ChrX | 76,141,674 | 76,153,292 | ||
| nssv16257162 | Submitted genomic | NC_000023.11:g.761 41674_76153292inv | GRCh38 (hg38) | NC_000023.11 | ChrX | 76,141,674 | 76,153,292 | ||
| nssv16257510 | Submitted genomic | NC_000023.11:g.761 41674_76153292inv | GRCh38 (hg38) | NC_000023.11 | ChrX | 76,141,674 | 76,153,292 | ||
| nssv16258445 | Submitted genomic | NC_000023.11:g.761 41674_76153292inv | GRCh38 (hg38) | NC_000023.11 | ChrX | 76,141,674 | 76,153,292 | ||
| nssv16256236 | Submitted genomic | NC_000023.11:g.761 45958_76149152inv | GRCh38 (hg38) | NC_000023.11 | ChrX | 76,145,958 | 76,149,152 | ||
| nssv16258252 | Submitted genomic | NC_000023.11:g.761 45958_76149152inv | GRCh38 (hg38) | NC_000023.11 | ChrX | 76,145,958 | 76,149,152 | ||
| nssv16258516 | Submitted genomic | NC_000023.11:g.761 45958_76149152inv | GRCh38 (hg38) | NC_000023.11 | ChrX | 76,145,958 | 76,149,152 | ||
| nssv16256201 | Submitted genomic | NC_000023.11:g.761 45984_76149084inv | GRCh38 (hg38) | NC_000023.11 | ChrX | 76,145,984 | 76,149,084 | ||
| nssv16257993 | Submitted genomic | NC_000023.11:g.761 45984_76149084inv | GRCh38 (hg38) | NC_000023.11 | ChrX | 76,145,984 | 76,149,084 | ||
| nssv16256972 | Submitted genomic | NC_000023.11:g.761 46142_76148988inv | GRCh38 (hg38) | NC_000023.11 | ChrX | 76,146,142 | 76,148,988 | ||
| nssv16257453 | Submitted genomic | NC_000023.11:g.761 46142_76148988inv | GRCh38 (hg38) | NC_000023.11 | ChrX | 76,146,142 | 76,148,988 | ||
| nssv16258000 | Submitted genomic | NC_000023.11:g.761 46142_76148988inv | GRCh38 (hg38) | NC_000023.11 | ChrX | 76,146,142 | 76,148,988 | ||
| nssv16258406 | Submitted genomic | NC_000023.11:g.761 46142_76148988inv | GRCh38 (hg38) | NC_000023.11 | ChrX | 76,146,142 | 76,148,988 | ||
| nssv16256165 | Remapped | Perfect | NW_003871100.1:g.1 61094_172712inv | GRCh37.p13 | First Pass | NW_003871100.1 | ChrX|NW_00 3871100.1 | 161,094 | 172,712 |
| nssv16256404 | Remapped | Perfect | NW_003871100.1:g.1 61094_172712inv | GRCh37.p13 | First Pass | NW_003871100.1 | ChrX|NW_00 3871100.1 | 161,094 | 172,712 |
| nssv16257162 | Remapped | Perfect | NW_003871100.1:g.1 61094_172712inv | GRCh37.p13 | First Pass | NW_003871100.1 | ChrX|NW_00 3871100.1 | 161,094 | 172,712 |
| nssv16257510 | Remapped | Perfect | NW_003871100.1:g.1 61094_172712inv | GRCh37.p13 | First Pass | NW_003871100.1 | ChrX|NW_00 3871100.1 | 161,094 | 172,712 |
| nssv16258445 | Remapped | Perfect | NW_003871100.1:g.1 61094_172712inv | GRCh37.p13 | First Pass | NW_003871100.1 | ChrX|NW_00 3871100.1 | 161,094 | 172,712 |
| nssv16256236 | Remapped | Perfect | NW_003871100.1:g.1 65378_168572inv | GRCh37.p13 | First Pass | NW_003871100.1 | ChrX|NW_00 3871100.1 | 165,378 | 168,572 |
| nssv16258252 | Remapped | Perfect | NW_003871100.1:g.1 65378_168572inv | GRCh37.p13 | First Pass | NW_003871100.1 | ChrX|NW_00 3871100.1 | 165,378 | 168,572 |
| nssv16258516 | Remapped | Perfect | NW_003871100.1:g.1 65378_168572inv | GRCh37.p13 | First Pass | NW_003871100.1 | ChrX|NW_00 3871100.1 | 165,378 | 168,572 |
| nssv16256201 | Remapped | Perfect | NW_003871100.1:g.1 65404_168504inv | GRCh37.p13 | First Pass | NW_003871100.1 | ChrX|NW_00 3871100.1 | 165,404 | 168,504 |
| nssv16257993 | Remapped | Perfect | NW_003871100.1:g.1 65404_168504inv | GRCh37.p13 | First Pass | NW_003871100.1 | ChrX|NW_00 3871100.1 | 165,404 | 168,504 |
| nssv16256972 | Remapped | Perfect | NW_003871100.1:g.1 65562_168408inv | GRCh37.p13 | First Pass | NW_003871100.1 | ChrX|NW_00 3871100.1 | 165,562 | 168,408 |
| nssv16257453 | Remapped | Perfect | NW_003871100.1:g.1 65562_168408inv | GRCh37.p13 | First Pass | NW_003871100.1 | ChrX|NW_00 3871100.1 | 165,562 | 168,408 |
| nssv16258000 | Remapped | Perfect | NW_003871100.1:g.1 65562_168408inv | GRCh37.p13 | First Pass | NW_003871100.1 | ChrX|NW_00 3871100.1 | 165,562 | 168,408 |
| nssv16258406 | Remapped | Perfect | NW_003871100.1:g.1 65562_168408inv | GRCh37.p13 | First Pass | NW_003871100.1 | ChrX|NW_00 3871100.1 | 165,562 | 168,408 |
| nssv16256165 | Remapped | Perfect | NC_000023.10:g.753 61509_75373127inv | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 75,361,509 | 75,373,127 |
| nssv16256404 | Remapped | Perfect | NC_000023.10:g.753 61509_75373127inv | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 75,361,509 | 75,373,127 |
| nssv16257162 | Remapped | Perfect | NC_000023.10:g.753 61509_75373127inv | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 75,361,509 | 75,373,127 |
| nssv16257510 | Remapped | Perfect | NC_000023.10:g.753 61509_75373127inv | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 75,361,509 | 75,373,127 |
| nssv16258445 | Remapped | Perfect | NC_000023.10:g.753 61509_75373127inv | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 75,361,509 | 75,373,127 |
| nssv16256236 | Remapped | Perfect | NC_000023.10:g.753 65793_75368987inv | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 75,365,793 | 75,368,987 |
| nssv16258252 | Remapped | Perfect | NC_000023.10:g.753 65793_75368987inv | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 75,365,793 | 75,368,987 |
| nssv16258516 | Remapped | Perfect | NC_000023.10:g.753 65793_75368987inv | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 75,365,793 | 75,368,987 |
| nssv16256201 | Remapped | Perfect | NC_000023.10:g.753 65819_75368919inv | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 75,365,819 | 75,368,919 |
| nssv16257993 | Remapped | Perfect | NC_000023.10:g.753 65819_75368919inv | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 75,365,819 | 75,368,919 |
| nssv16256972 | Remapped | Perfect | NC_000023.10:g.753 65977_75368823inv | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 75,365,977 | 75,368,823 |
| nssv16257453 | Remapped | Perfect | NC_000023.10:g.753 65977_75368823inv | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 75,365,977 | 75,368,823 |
| nssv16258000 | Remapped | Perfect | NC_000023.10:g.753 65977_75368823inv | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 75,365,977 | 75,368,823 |
| nssv16258406 | Remapped | Perfect | NC_000023.10:g.753 65977_75368823inv | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 75,365,977 | 75,368,823 |