nsv4387008
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:5
- Validation:Not tested
- Clinical Assertions: No
- Region Size:27,285
- 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: 447 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 447 SVs from 64 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4387008 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 57,290,817 | 57,318,101 |
nsv4387008 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 57,864,951 | 57,892,235 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv15616727 | copy number loss | 1-0880-003 | SNP array | Genotyping | 28 |
nssv15639180 | copy number loss | 14-0277-001 | SNP array | Genotyping | 26 |
nssv15639206 | copy number loss | 14-0277-002 | SNP array | Genotyping | 19 |
nssv15652114 | copy number loss | 2-1513-003 | SNP array | Genotyping | 22 |
nssv15665455 | copy number loss | 7-0061-003 | SNP array | Genotyping | 32 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15616727 | Remapped | Perfect | NC_000013.11:g.(?_ 57290817)_(5731810 1_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 57,290,817 | 57,318,101 |
nssv15639180 | Remapped | Perfect | NC_000013.11:g.(?_ 57290817)_(5731810 1_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 57,290,817 | 57,318,101 |
nssv15639206 | Remapped | Perfect | NC_000013.11:g.(?_ 57290817)_(5731810 1_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 57,290,817 | 57,318,101 |
nssv15652114 | Remapped | Perfect | NC_000013.11:g.(?_ 57290817)_(5731810 1_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 57,290,817 | 57,318,101 |
nssv15665455 | Remapped | Perfect | NC_000013.11:g.(?_ 57290817)_(5731810 1_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 57,290,817 | 57,318,101 |
nssv15616727 | Submitted genomic | NC_000013.10:g.(?_ 57864951)_(5789223 5_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 57,864,951 | 57,892,235 | ||
nssv15639180 | Submitted genomic | NC_000013.10:g.(?_ 57864951)_(5789223 5_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 57,864,951 | 57,892,235 | ||
nssv15639206 | Submitted genomic | NC_000013.10:g.(?_ 57864951)_(5789223 5_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 57,864,951 | 57,892,235 | ||
nssv15652114 | Submitted genomic | NC_000013.10:g.(?_ 57864951)_(5789223 5_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 57,864,951 | 57,892,235 | ||
nssv15665455 | Submitted genomic | NC_000013.10:g.(?_ 57864951)_(5789223 5_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 57,864,951 | 57,892,235 |