nsv4375321
- 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:21,417
- 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: 654 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 657 SVs from 72 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4375321 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 169,264,735 | 169,286,151 |
| nsv4375321 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 169,233,973 | 169,255,389 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15682876 | copy number loss | OCD119-S_1725 | SNP array | Genotyping | 19 |
| nssv15684489 | copy number loss | OCD139-0625-4194-3 | SNP array | Genotyping | 26 |
| nssv15701404 | copy number loss | 209721 | SNP array | Genotyping | 21 |
| nssv15702415 | copy number loss | 158445 | SNP array | Genotyping | 23 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15682876 | Remapped | Perfect | NC_000001.11:g.(?_ 169264735)_(169286 151_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 169,264,735 | 169,286,151 |
| nssv15684489 | Remapped | Perfect | NC_000001.11:g.(?_ 169264735)_(169286 151_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 169,264,735 | 169,286,151 |
| nssv15701404 | Remapped | Perfect | NC_000001.11:g.(?_ 169264735)_(169286 151_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 169,264,735 | 169,286,151 |
| nssv15702415 | Remapped | Perfect | NC_000001.11:g.(?_ 169264735)_(169286 151_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 169,264,735 | 169,286,151 |
| nssv15682876 | Submitted genomic | NC_000001.10:g.(?_ 169233973)_(169255 389_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 169,233,973 | 169,255,389 | ||
| nssv15684489 | Submitted genomic | NC_000001.10:g.(?_ 169233973)_(169255 389_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 169,233,973 | 169,255,389 | ||
| nssv15701404 | Submitted genomic | NC_000001.10:g.(?_ 169233973)_(169255 389_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 169,233,973 | 169,255,389 | ||
| nssv15702415 | Submitted genomic | NC_000001.10:g.(?_ 169233973)_(169255 389_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 169,233,973 | 169,255,389 |