nsv6628178
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:114,965
- Publication(s):Zarrei et al. 2023
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: 703 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 703 SVs from 68 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6628178 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 95,799,453 | 95,914,417 |
nsv6628178 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 96,465,201 | 96,580,165 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18297582 | duplication | OSC4866 | SNP array | Probe signal intensity | nssv18297580, nssv18296697, nssv18297581 |
nssv18299680 | duplication | OSC5273 | SNP array | Probe signal intensity | 7 |
nssv18299986 | duplication | OSC5288 | SNP array | Probe signal intensity | 5 |
nssv18300965 | duplication | OSC5557 | SNP array | Probe signal intensity | 6 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18297582 | Remapped | Perfect | NC_000002.12:g.(?_ 95799453)_(9591441 7_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 95,799,453 | 95,914,417 |
nssv18299680 | Remapped | Perfect | NC_000002.12:g.(?_ 95799453)_(9591441 7_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 95,799,453 | 95,914,417 |
nssv18299986 | Remapped | Perfect | NC_000002.12:g.(?_ 95799453)_(9591441 7_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 95,799,453 | 95,914,417 |
nssv18300965 | Remapped | Perfect | NC_000002.12:g.(?_ 95799453)_(9591441 7_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 95,799,453 | 95,914,417 |
nssv18297582 | Submitted genomic | NC_000002.11:g.(?_ 96465201)_(9658016 5_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 96,465,201 | 96,580,165 | ||
nssv18299680 | Submitted genomic | NC_000002.11:g.(?_ 96465201)_(9658016 5_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 96,465,201 | 96,580,165 | ||
nssv18299986 | Submitted genomic | NC_000002.11:g.(?_ 96465201)_(9658016 5_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 96,465,201 | 96,580,165 | ||
nssv18300965 | Submitted genomic | NC_000002.11:g.(?_ 96465201)_(9658016 5_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 96,465,201 | 96,580,165 |