nsv4386347
- 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:337,311
- 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: 1200 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 1200 SVs from 80 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4386347 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 125,442,221 | 125,779,531 |
| nsv4386347 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 125,082,275 | 125,419,585 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15619892 | copy number loss | 1-0917-003 | SNP array | Genotyping | 21 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15619892 | Remapped | Perfect | NC_000007.14:g.(?_ 125442221)_(125779 531_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 125,442,221 | 125,779,531 |
| nssv15619892 | Submitted genomic | NC_000007.13:g.(?_ 125082275)_(125419 585_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 125,082,275 | 125,419,585 |