nsv4372751
- 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:274,144
- 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: 2242 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 2240 SVs from 90 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4372751 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 113,659,457 | 113,933,600 |
| nsv4372751 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 114,313,772 | 114,636,573 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15645931 | copy number gain | 2-0295-003 | SNP array | Genotyping | 21 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15645931 | Remapped | Pass | NC_000013.11:g.(?_ 113659457)_(113933 600_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 113,659,457 | 113,933,600 |
| nssv15645931 | Submitted genomic | NC_000013.10:g.(?_ 114313772)_(114636 573_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 114,313,772 | 114,636,573 |