nsv3218194
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:copy number variation
- Method Type:Optical mapping
- Submitted on:GRCh38 (hg38)
- Variant Calls:9
- Validation:Not tested
- Clinical Assertions: No
- Region Size:94,618
- Publication(s):Chaisson et al. 2019
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: 647 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 647 SVs from 81 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3218194 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 96,824,384 | 96,919,001 | ||
| nsv3218194 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 96,453,696 | 96,548,313 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv14277577 | deletion | HG00512 | Optical mapping | Optical mapping | Homozygous | 13,827 |
| nssv14277578 | deletion | SAMN00006466 | Optical mapping | Optical mapping | Homozygous | 14,137 |
| nssv14277579 | deletion | HG00514 | Optical mapping | Optical mapping | Homozygous | 39,861 |
| nssv14277580 | deletion | SAMN00006579 | Optical mapping | Optical mapping | Homozygous | 13,953 |
| nssv14277581 | deletion | SAMN00006580 | Optical mapping | Optical mapping | Heterozygous | 14,212 |
| nssv14277582 | deletion | SAMN00006581 | Optical mapping | Optical mapping | Heterozygous | 41,185 |
| nssv14277583 | deletion | SAMN00001694 | Optical mapping | Optical mapping | Heterozygous | 16,419 |
| nssv14277584 | deletion | SAMN00001695 | Optical mapping | Optical mapping | Homozygous | 15,732 |
| nssv14277585 | deletion | SAMN00001696 | Optical mapping | Optical mapping | Heterozygous | 45,591 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14277577 | Submitted genomic | NC_000007.14:g.(96 824384_?)_(?_96919 001)del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 96,824,384 | 96,919,001 | ||
| nssv14277578 | Submitted genomic | NC_000007.14:g.(96 824384_?)_(?_96919 001)del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 96,824,384 | 96,919,001 | ||
| nssv14277579 | Submitted genomic | NC_000007.14:g.(96 824384_?)_(?_96919 001)del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 96,824,384 | 96,919,001 | ||
| nssv14277580 | Submitted genomic | NC_000007.14:g.(96 824384_?)_(?_96919 001)del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 96,824,384 | 96,919,001 | ||
| nssv14277581 | Submitted genomic | NC_000007.14:g.(96 824384_?)_(?_96919 001)del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 96,824,384 | 96,919,001 | ||
| nssv14277582 | Submitted genomic | NC_000007.14:g.(96 824384_?)_(?_96919 001)del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 96,824,384 | 96,919,001 | ||
| nssv14277583 | Submitted genomic | NC_000007.14:g.(96 824384_?)_(?_96919 001)del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 96,824,384 | 96,919,001 | ||
| nssv14277584 | Submitted genomic | NC_000007.14:g.(96 824384_?)_(?_96919 001)del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 96,824,384 | 96,919,001 | ||
| nssv14277585 | Submitted genomic | NC_000007.14:g.(96 824384_?)_(?_96919 001)del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 96,824,384 | 96,919,001 | ||
| nssv14277577 | Remapped | Perfect | NC_000007.13:g.(96 453696_?)_(?_96548 313)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 96,453,696 | 96,548,313 |
| nssv14277578 | Remapped | Perfect | NC_000007.13:g.(96 453696_?)_(?_96548 313)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 96,453,696 | 96,548,313 |
| nssv14277579 | Remapped | Perfect | NC_000007.13:g.(96 453696_?)_(?_96548 313)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 96,453,696 | 96,548,313 |
| nssv14277580 | Remapped | Perfect | NC_000007.13:g.(96 453696_?)_(?_96548 313)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 96,453,696 | 96,548,313 |
| nssv14277581 | Remapped | Perfect | NC_000007.13:g.(96 453696_?)_(?_96548 313)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 96,453,696 | 96,548,313 |
| nssv14277582 | Remapped | Perfect | NC_000007.13:g.(96 453696_?)_(?_96548 313)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 96,453,696 | 96,548,313 |
| nssv14277583 | Remapped | Perfect | NC_000007.13:g.(96 453696_?)_(?_96548 313)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 96,453,696 | 96,548,313 |
| nssv14277584 | Remapped | Perfect | NC_000007.13:g.(96 453696_?)_(?_96548 313)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 96,453,696 | 96,548,313 |
| nssv14277585 | Remapped | Perfect | NC_000007.13:g.(96 453696_?)_(?_96548 313)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 96,453,696 | 96,548,313 |