nsv3317116
- Organism: Homo sapiens
- Study:nstd157 (Frenkel 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:9,032
- Publication(s):Frenkel 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: 405 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 405 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3317116 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 5,311,348 | 5,320,379 |
| nsv3317116 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 5,313,075 | 5,322,106 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14471490 | copy number loss | M2456 | SNP array | SNP genotyping analysis | 29 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14471490 | Remapped | Perfect | NC_000004.12:g.(?_ 5311348)_(5320379_ ?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 5,311,348 | 5,320,379 |
| nssv14471490 | Submitted genomic | NC_000004.11:g.(?_ 5313075)_(5322106_ ?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 5,313,075 | 5,322,106 |