nsv3229833
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:insertion
- Method Type:Optical mapping
- Submitted on:GRCh38 (hg38)
- Variant Calls:7
- Validation:Not tested
- Clinical Assertions: No
- Region Size:104,929
- 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: 1522 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 1522 SVs from 85 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3229833 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 168,558,735 | 168,663,663 | ||
nsv3229833 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 168,959,415 | 169,064,343 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv14277216 | insertion | SAMN00006580 | Optical mapping | Optical mapping | Homozygous | 14,212 |
nssv14278269 | insertion | HG00512 | Optical mapping | Optical mapping | Homozygous | 13,827 |
nssv14278270 | insertion | SAMN00006466 | Optical mapping | Optical mapping | Heterozygous | 14,137 |
nssv14278271 | insertion | HG00514 | Optical mapping | Optical mapping | Homozygous | 39,861 |
nssv14278272 | insertion | SAMN00006579 | Optical mapping | Optical mapping | Homozygous | 13,953 |
nssv14278273 | insertion | SAMN00006581 | Optical mapping | Optical mapping | Heterozygous | 41,185 |
nssv14278274 | insertion | SAMN00001694 | Optical mapping | Optical mapping | Heterozygous | 16,419 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14277216 | Submitted genomic | NC_000006.12:g.(16 8558735_?)_(?_1686 63663)ins251 | GRCh38 (hg38) | NC_000006.12 | Chr6 | 168,558,735 | 168,663,663 | ||
nssv14278269 | Submitted genomic | NC_000006.12:g.(16 8558735_?)_(?_1686 63663)ins5211 | GRCh38 (hg38) | NC_000006.12 | Chr6 | 168,558,735 | 168,663,663 | ||
nssv14278270 | Submitted genomic | NC_000006.12:g.(16 8558735_?)_(?_1686 63663)ins5211 | GRCh38 (hg38) | NC_000006.12 | Chr6 | 168,558,735 | 168,663,663 | ||
nssv14278271 | Submitted genomic | NC_000006.12:g.(16 8558735_?)_(?_1686 63663)ins5211 | GRCh38 (hg38) | NC_000006.12 | Chr6 | 168,558,735 | 168,663,663 | ||
nssv14278272 | Submitted genomic | NC_000006.12:g.(16 8558735_?)_(?_1686 63663)ins5211 | GRCh38 (hg38) | NC_000006.12 | Chr6 | 168,558,735 | 168,663,663 | ||
nssv14278273 | Submitted genomic | NC_000006.12:g.(16 8558735_?)_(?_1686 63663)ins5211 | GRCh38 (hg38) | NC_000006.12 | Chr6 | 168,558,735 | 168,663,663 | ||
nssv14278274 | Submitted genomic | NC_000006.12:g.(16 8558735_?)_(?_1686 63663)ins5211 | GRCh38 (hg38) | NC_000006.12 | Chr6 | 168,558,735 | 168,663,663 | ||
nssv14277216 | Remapped | Perfect | NC_000006.11:g.(16 8959415_?)_(?_1690 64343)ins251 | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 168,959,415 | 169,064,343 |
nssv14278269 | Remapped | Perfect | NC_000006.11:g.(16 8959415_?)_(?_1690 64343)ins5211 | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 168,959,415 | 169,064,343 |
nssv14278270 | Remapped | Perfect | NC_000006.11:g.(16 8959415_?)_(?_1690 64343)ins5211 | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 168,959,415 | 169,064,343 |
nssv14278271 | Remapped | Perfect | NC_000006.11:g.(16 8959415_?)_(?_1690 64343)ins5211 | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 168,959,415 | 169,064,343 |
nssv14278272 | Remapped | Perfect | NC_000006.11:g.(16 8959415_?)_(?_1690 64343)ins5211 | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 168,959,415 | 169,064,343 |
nssv14278273 | Remapped | Perfect | NC_000006.11:g.(16 8959415_?)_(?_1690 64343)ins5211 | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 168,959,415 | 169,064,343 |
nssv14278274 | Remapped | Perfect | NC_000006.11:g.(16 8959415_?)_(?_1690 64343)ins5211 | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 168,959,415 | 169,064,343 |