nsv3241900
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:insertion
- Method Type:Optical mapping
- Submitted on:GRCh38 (hg38)
- Variant Calls:5
- Validation:Not tested
- Clinical Assertions: No
- Region Size:93,127
- 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: 3947 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 3940 SVs from 97 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3241900 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000015.10 | Chr15 | 20,291,737 | 20,384,863 | ||
nsv3241900 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000015.9 | Chr15 | 20,496,990 | 20,590,116 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv14259429 | insertion | HG00512 | Optical mapping | Optical mapping | Heterozygous | 13,827 |
nssv14259430 | insertion | SAMN00006466 | Optical mapping | Optical mapping | Heterozygous | 14,137 |
nssv14259431 | insertion | HG00514 | Optical mapping | Optical mapping | Heterozygous | 39,861 |
nssv14259432 | insertion | SAMN00001695 | Optical mapping | Optical mapping | Heterozygous | 15,732 |
nssv14259433 | insertion | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv14259429 | Submitted genomic | NC_000015.10:g.(20 291737_?)_(?_20384 863)ins3378 | GRCh38 (hg38) | NC_000015.10 | Chr15 | 20,291,737 | 20,384,863 | ||
nssv14259430 | Submitted genomic | NC_000015.10:g.(20 291737_?)_(?_20384 863)ins3378 | GRCh38 (hg38) | NC_000015.10 | Chr15 | 20,291,737 | 20,384,863 | ||
nssv14259431 | Submitted genomic | NC_000015.10:g.(20 291737_?)_(?_20384 863)ins3378 | GRCh38 (hg38) | NC_000015.10 | Chr15 | 20,291,737 | 20,384,863 | ||
nssv14259432 | Submitted genomic | NC_000015.10:g.(20 291737_?)_(?_20384 863)ins3378 | GRCh38 (hg38) | NC_000015.10 | Chr15 | 20,291,737 | 20,384,863 | ||
nssv14259433 | Submitted genomic | NC_000015.10:g.(20 291737_?)_(?_20384 863)ins3378 | GRCh38 (hg38) | NC_000015.10 | Chr15 | 20,291,737 | 20,384,863 | ||
nssv14259429 | Remapped | Perfect | NC_000015.9:g.(204 96990_?)_(?_205901 16)ins3378 | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 20,496,990 | 20,590,116 |
nssv14259430 | Remapped | Perfect | NC_000015.9:g.(204 96990_?)_(?_205901 16)ins3378 | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 20,496,990 | 20,590,116 |
nssv14259431 | Remapped | Perfect | NC_000015.9:g.(204 96990_?)_(?_205901 16)ins3378 | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 20,496,990 | 20,590,116 |
nssv14259432 | Remapped | Perfect | NC_000015.9:g.(204 96990_?)_(?_205901 16)ins3378 | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 20,496,990 | 20,590,116 |
nssv14259433 | Remapped | Perfect | NC_000015.9:g.(204 96990_?)_(?_205901 16)ins3378 | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 20,496,990 | 20,590,116 |