nsv4368890
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:70,178
- 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: 609 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 609 SVs from 83 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4368890 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 8,804,567 | 8,874,744 |
nsv4368890 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 8,844,197 | 8,914,374 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv15622105 | copy number loss | 1-1048-003 | SNP array | Genotyping | 21 |
nssv15634950 | copy number loss | 12-4425-002 | SNP array | Genotyping | 26 |
nssv15634989 | copy number loss | 12-4425-005 | SNP array | Genotyping | 24 |
nssv15635445 | copy number loss | 12-4425-004 | SNP array | Genotyping | 22 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15622105 | Remapped | Perfect | NC_000007.14:g.(?_ 8804567)_(8874744_ ?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 8,804,567 | 8,874,744 |
nssv15634950 | Remapped | Perfect | NC_000007.14:g.(?_ 8804567)_(8874744_ ?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 8,804,567 | 8,874,744 |
nssv15634989 | Remapped | Perfect | NC_000007.14:g.(?_ 8804567)_(8874744_ ?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 8,804,567 | 8,874,744 |
nssv15635445 | Remapped | Perfect | NC_000007.14:g.(?_ 8804567)_(8874744_ ?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 8,804,567 | 8,874,744 |
nssv15622105 | Submitted genomic | NC_000007.13:g.(?_ 8844197)_(8914374_ ?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 8,844,197 | 8,914,374 | ||
nssv15634950 | Submitted genomic | NC_000007.13:g.(?_ 8844197)_(8914374_ ?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 8,844,197 | 8,914,374 | ||
nssv15634989 | Submitted genomic | NC_000007.13:g.(?_ 8844197)_(8914374_ ?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 8,844,197 | 8,914,374 | ||
nssv15635445 | Submitted genomic | NC_000007.13:g.(?_ 8844197)_(8914374_ ?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 8,844,197 | 8,914,374 |