nsv3221600
- 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:132,509
- 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: 175 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 79 SVs from 23 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3221600 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 70,934,772 | 71,067,280 | ||
nsv3221600 | Remapped | Pass | GRCh37.p13 | PATCHES | First Pass | NW_004070871.1 | Chr11|NW_0 04070871.1 | 478,985 | 561,493 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv14253052 | deletion | HG00512 | Optical mapping | Optical mapping | Homozygous | 13,827 |
nssv14253053 | deletion | SAMN00006466 | Optical mapping | Optical mapping | Homozygous | 14,137 |
nssv14253054 | deletion | HG00514 | Optical mapping | Optical mapping | Homozygous | 39,861 |
nssv14253055 | deletion | SAMN00006579 | Optical mapping | Optical mapping | Homozygous | 13,953 |
nssv14253056 | deletion | SAMN00006580 | Optical mapping | Optical mapping | Homozygous | 14,212 |
nssv14253057 | deletion | SAMN00006581 | Optical mapping | Optical mapping | Homozygous | 41,185 |
nssv14253058 | deletion | SAMN00001694 | Optical mapping | Optical mapping | Homozygous | 16,419 |
nssv14253059 | deletion | SAMN00001695 | Optical mapping | Optical mapping | Homozygous | 15,732 |
nssv14253060 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv14253052 | Submitted genomic | NC_000011.10:g.(70 934772_?)_(?_71067 280)del | GRCh38 (hg38) | NC_000011.10 | Chr11 | 70,934,772 | 71,067,280 | ||
nssv14253053 | Submitted genomic | NC_000011.10:g.(70 934772_?)_(?_71067 280)del | GRCh38 (hg38) | NC_000011.10 | Chr11 | 70,934,772 | 71,067,280 | ||
nssv14253054 | Submitted genomic | NC_000011.10:g.(70 934772_?)_(?_71067 280)del | GRCh38 (hg38) | NC_000011.10 | Chr11 | 70,934,772 | 71,067,280 | ||
nssv14253055 | Submitted genomic | NC_000011.10:g.(70 934772_?)_(?_71067 280)del | GRCh38 (hg38) | NC_000011.10 | Chr11 | 70,934,772 | 71,067,280 | ||
nssv14253056 | Submitted genomic | NC_000011.10:g.(70 934772_?)_(?_71067 280)del | GRCh38 (hg38) | NC_000011.10 | Chr11 | 70,934,772 | 71,067,280 | ||
nssv14253057 | Submitted genomic | NC_000011.10:g.(70 934772_?)_(?_71067 280)del | GRCh38 (hg38) | NC_000011.10 | Chr11 | 70,934,772 | 71,067,280 | ||
nssv14253058 | Submitted genomic | NC_000011.10:g.(70 934772_?)_(?_71067 280)del | GRCh38 (hg38) | NC_000011.10 | Chr11 | 70,934,772 | 71,067,280 | ||
nssv14253059 | Submitted genomic | NC_000011.10:g.(70 934772_?)_(?_71067 280)del | GRCh38 (hg38) | NC_000011.10 | Chr11 | 70,934,772 | 71,067,280 | ||
nssv14253060 | Submitted genomic | NC_000011.10:g.(70 934772_?)_(?_71067 280)del | GRCh38 (hg38) | NC_000011.10 | Chr11 | 70,934,772 | 71,067,280 | ||
nssv14253052 | Remapped | Pass | NW_004070871.1:g.( 478985_?)_(?_56149 3)del | GRCh37.p13 | First Pass | NW_004070871.1 | Chr11|NW_0 04070871.1 | 478,985 | 561,493 |
nssv14253053 | Remapped | Pass | NW_004070871.1:g.( 478985_?)_(?_56149 3)del | GRCh37.p13 | First Pass | NW_004070871.1 | Chr11|NW_0 04070871.1 | 478,985 | 561,493 |
nssv14253054 | Remapped | Pass | NW_004070871.1:g.( 478985_?)_(?_56149 3)del | GRCh37.p13 | First Pass | NW_004070871.1 | Chr11|NW_0 04070871.1 | 478,985 | 561,493 |
nssv14253055 | Remapped | Pass | NW_004070871.1:g.( 478985_?)_(?_56149 3)del | GRCh37.p13 | First Pass | NW_004070871.1 | Chr11|NW_0 04070871.1 | 478,985 | 561,493 |
nssv14253056 | Remapped | Pass | NW_004070871.1:g.( 478985_?)_(?_56149 3)del | GRCh37.p13 | First Pass | NW_004070871.1 | Chr11|NW_0 04070871.1 | 478,985 | 561,493 |
nssv14253057 | Remapped | Pass | NW_004070871.1:g.( 478985_?)_(?_56149 3)del | GRCh37.p13 | First Pass | NW_004070871.1 | Chr11|NW_0 04070871.1 | 478,985 | 561,493 |
nssv14253058 | Remapped | Pass | NW_004070871.1:g.( 478985_?)_(?_56149 3)del | GRCh37.p13 | First Pass | NW_004070871.1 | Chr11|NW_0 04070871.1 | 478,985 | 561,493 |
nssv14253059 | Remapped | Pass | NW_004070871.1:g.( 478985_?)_(?_56149 3)del | GRCh37.p13 | First Pass | NW_004070871.1 | Chr11|NW_0 04070871.1 | 478,985 | 561,493 |
nssv14253060 | Remapped | Pass | NW_004070871.1:g.( 478985_?)_(?_56149 3)del | GRCh37.p13 | First Pass | NW_004070871.1 | Chr11|NW_0 04070871.1 | 478,985 | 561,493 |