nsv4385484
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:6
- Validation:Not tested
- Clinical Assertions: No
- Region Size:50,271
- Publication(s):Zarrei 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: 630 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 630 SVs from 71 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4385484 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 83,531,592 | 83,581,862 |
nsv4385484 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 84,105,727 | 84,155,997 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv15637382 | copy number loss | 13-0094-004 | SNP array | Genotyping | 24 |
nssv15670248 | copy number loss | 7-0288-003 | SNP array | Genotyping | 20 |
nssv15686274 | copy number loss | OCD3-S_896083 | SNP array | Genotyping | 27 |
nssv15691244 | copy number loss | OCD29-B_OL-1241 | SNP array | Genotyping | 20 |
nssv15691283 | copy number loss | OCD3-S_896082 | SNP array | Genotyping | 22 |
nssv15697945 | copy number loss | 216640 | SNP array | Genotyping | 17 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15637382 | Remapped | Perfect | NC_000013.11:g.(?_ 83531592)_(8358186 2_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 83,531,592 | 83,581,862 |
nssv15670248 | Remapped | Perfect | NC_000013.11:g.(?_ 83531592)_(8358186 2_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 83,531,592 | 83,581,862 |
nssv15686274 | Remapped | Perfect | NC_000013.11:g.(?_ 83531592)_(8358186 2_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 83,531,592 | 83,581,862 |
nssv15691244 | Remapped | Perfect | NC_000013.11:g.(?_ 83531592)_(8358186 2_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 83,531,592 | 83,581,862 |
nssv15691283 | Remapped | Perfect | NC_000013.11:g.(?_ 83531592)_(8358186 2_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 83,531,592 | 83,581,862 |
nssv15697945 | Remapped | Perfect | NC_000013.11:g.(?_ 83531592)_(8358186 2_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 83,531,592 | 83,581,862 |
nssv15637382 | Submitted genomic | NC_000013.10:g.(?_ 84105727)_(8415599 7_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 84,105,727 | 84,155,997 | ||
nssv15670248 | Submitted genomic | NC_000013.10:g.(?_ 84105727)_(8415599 7_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 84,105,727 | 84,155,997 | ||
nssv15686274 | Submitted genomic | NC_000013.10:g.(?_ 84105727)_(8415599 7_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 84,105,727 | 84,155,997 | ||
nssv15691244 | Submitted genomic | NC_000013.10:g.(?_ 84105727)_(8415599 7_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 84,105,727 | 84,155,997 | ||
nssv15691283 | Submitted genomic | NC_000013.10:g.(?_ 84105727)_(8415599 7_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 84,105,727 | 84,155,997 | ||
nssv15697945 | Submitted genomic | NC_000013.10:g.(?_ 84105727)_(8415599 7_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 84,105,727 | 84,155,997 |