nsv4370687
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:59,489
- 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: 229 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 229 SVs from 41 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4370687 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 123,966,040 | 124,025,528 |
| nsv4370687 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 123,301,734 | 123,361,221 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15653019 | copy number loss | 2-1583-003 | SNP array | Genotyping | 27 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15653019 | Remapped | Good | NC_000005.10:g.(?_ 123966040)_(124025 528_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 123,966,040 | 124,025,528 |
| nssv15653019 | Submitted genomic | NC_000005.9:g.(?_1 23301734)_(1233612 21_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 123,301,734 | 123,361,221 |