nsv4388251
- 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:69,310
- 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: 326 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 326 SVs from 45 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4388251 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 75,746,630 | 75,815,939 |
| nsv4388251 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 76,456,347 | 76,525,656 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15615274 | copy number loss | 1-0765-003 | SNP array | Genotyping | 26 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15615274 | Remapped | Perfect | NC_000006.12:g.(?_ 75746630)_(7581593 9_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 75,746,630 | 75,815,939 |
| nssv15615274 | Submitted genomic | NC_000006.11:g.(?_ 76456347)_(7652565 6_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 76,456,347 | 76,525,656 |