nsv4384414
- 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:70,823
- 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: 358 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 358 SVs from 57 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4384414 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 87,124,616 | 87,195,438 |
| nsv4384414 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 88,884,373 | 88,955,195 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15657339 | copy number gain | 3-0380-002 | SNP array | Genotyping | 28 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15657339 | Remapped | Perfect | NC_000010.11:g.(?_ 87124616)_(8719543 8_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 87,124,616 | 87,195,438 |
| nssv15657339 | Submitted genomic | NC_000010.10:g.(?_ 88884373)_(8895519 5_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 88,884,373 | 88,955,195 |