nsv3190695
- 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:89,044
- 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: 620 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 620 SVs from 69 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3190695 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 180,895,149 | 180,984,192 | ||
nsv3190695 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 181,816,302 | 181,905,345 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv14273787 | deletion | HG00512 | Optical mapping | Optical mapping | Homozygous | 13,827 |
nssv14273788 | deletion | SAMN00006466 | Optical mapping | Optical mapping | Homozygous | 14,137 |
nssv14273789 | deletion | HG00514 | Optical mapping | Optical mapping | Homozygous | 39,861 |
nssv14273790 | deletion | SAMN00006579 | Optical mapping | Optical mapping | Homozygous | 13,953 |
nssv14273791 | deletion | SAMN00006580 | Optical mapping | Optical mapping | Homozygous | 14,212 |
nssv14273792 | deletion | SAMN00006581 | Optical mapping | Optical mapping | Homozygous | 41,185 |
nssv14273793 | deletion | SAMN00001694 | Optical mapping | Optical mapping | Homozygous | 16,419 |
nssv14273794 | deletion | SAMN00001695 | Optical mapping | Optical mapping | Homozygous | 15,732 |
nssv14273795 | deletion | SAMN00001696 | Optical mapping | Optical mapping | Homozygous | 45,591 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14273787 | Submitted genomic | NC_000004.12:g.(18 0895149_?)_(?_1809 84192)del | GRCh38 (hg38) | NC_000004.12 | Chr4 | 180,895,149 | 180,984,192 | ||
nssv14273788 | Submitted genomic | NC_000004.12:g.(18 0895149_?)_(?_1809 84192)del | GRCh38 (hg38) | NC_000004.12 | Chr4 | 180,895,149 | 180,984,192 | ||
nssv14273789 | Submitted genomic | NC_000004.12:g.(18 0895149_?)_(?_1809 84192)del | GRCh38 (hg38) | NC_000004.12 | Chr4 | 180,895,149 | 180,984,192 | ||
nssv14273790 | Submitted genomic | NC_000004.12:g.(18 0895149_?)_(?_1809 84192)del | GRCh38 (hg38) | NC_000004.12 | Chr4 | 180,895,149 | 180,984,192 | ||
nssv14273791 | Submitted genomic | NC_000004.12:g.(18 0895149_?)_(?_1809 84192)del | GRCh38 (hg38) | NC_000004.12 | Chr4 | 180,895,149 | 180,984,192 | ||
nssv14273792 | Submitted genomic | NC_000004.12:g.(18 0895149_?)_(?_1809 84192)del | GRCh38 (hg38) | NC_000004.12 | Chr4 | 180,895,149 | 180,984,192 | ||
nssv14273793 | Submitted genomic | NC_000004.12:g.(18 0895149_?)_(?_1809 84192)del | GRCh38 (hg38) | NC_000004.12 | Chr4 | 180,895,149 | 180,984,192 | ||
nssv14273794 | Submitted genomic | NC_000004.12:g.(18 0895149_?)_(?_1809 84192)del | GRCh38 (hg38) | NC_000004.12 | Chr4 | 180,895,149 | 180,984,192 | ||
nssv14273795 | Submitted genomic | NC_000004.12:g.(18 0895149_?)_(?_1809 84192)del | GRCh38 (hg38) | NC_000004.12 | Chr4 | 180,895,149 | 180,984,192 | ||
nssv14273787 | Remapped | Perfect | NC_000004.11:g.(18 1816302_?)_(?_1819 05345)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 181,816,302 | 181,905,345 |
nssv14273788 | Remapped | Perfect | NC_000004.11:g.(18 1816302_?)_(?_1819 05345)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 181,816,302 | 181,905,345 |
nssv14273789 | Remapped | Perfect | NC_000004.11:g.(18 1816302_?)_(?_1819 05345)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 181,816,302 | 181,905,345 |
nssv14273790 | Remapped | Perfect | NC_000004.11:g.(18 1816302_?)_(?_1819 05345)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 181,816,302 | 181,905,345 |
nssv14273791 | Remapped | Perfect | NC_000004.11:g.(18 1816302_?)_(?_1819 05345)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 181,816,302 | 181,905,345 |
nssv14273792 | Remapped | Perfect | NC_000004.11:g.(18 1816302_?)_(?_1819 05345)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 181,816,302 | 181,905,345 |
nssv14273793 | Remapped | Perfect | NC_000004.11:g.(18 1816302_?)_(?_1819 05345)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 181,816,302 | 181,905,345 |
nssv14273794 | Remapped | Perfect | NC_000004.11:g.(18 1816302_?)_(?_1819 05345)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 181,816,302 | 181,905,345 |
nssv14273795 | Remapped | Perfect | NC_000004.11:g.(18 1816302_?)_(?_1819 05345)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 181,816,302 | 181,905,345 |