nsv4384242
- 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:41,957
- 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: 322 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 322 SVs from 52 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4384242 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 50,553,258 | 50,595,214 |
| nsv4384242 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 50,780,396 | 50,822,352 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15693497 | copy number gain | OCD71-896302 | SNP array | Genotyping | 22 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15693497 | Remapped | Perfect | NC_000002.12:g.(?_ 50553258)_(5059521 4_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 50,553,258 | 50,595,214 |
| nssv15693497 | Submitted genomic | NC_000002.11:g.(?_ 50780396)_(5082235 2_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 50,780,396 | 50,822,352 |