nsv6133073
- Organism: Homo sapiens
- Study:nstd213 (Pham et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:270,004
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: 1156 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 437 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 1156 SVs from 80 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6133073 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 7,286,681 | 7,556,684 |
nsv6133073 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_016107299.1 | Chr17|NW_0 16107299.1 | 1 | 154,723 |
nsv6133073 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 7,190,000 | 7,460,001 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17680670 | copy number loss | SAMN20524659 | Sequencing | Paired-end mapping | 203 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17680670 | Remapped | Pass | NW_016107299.1:g.1 _154723del | GRCh38.p12 | Second Pass | NW_016107299.1 | Chr17|NW_0 16107299.1 | 1 | 154,723 |
nssv17680670 | Remapped | Good | NC_000017.11:g.728 6681_7556684del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 7,286,681 | 7,556,684 |
nssv17680670 | Submitted genomic | NC_000017.10:g.719 0000_7460001del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 7,190,000 | 7,460,001 |