nsv4371437
- 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:35,217
- 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: 518 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 134 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 518 SVs from 55 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4371437 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 1,566,694 | 1,601,910 |
| nsv4371437 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187611.1 | Chr17|NT_1 87611.1 | 1 | 31,938 |
| nsv4371437 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 1,469,988 | 1,505,204 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15649337 | copy number loss | 2-1375-002 | SNP array | Genotyping | 23 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15649337 | Remapped | Pass | NT_187611.1:g.(?_1 )_(31938_?)del | GRCh38.p12 | Second Pass | NT_187611.1 | Chr17|NT_1 87611.1 | 1 | 31,938 |
| nssv15649337 | Remapped | Perfect | NC_000017.11:g.(?_ 1566694)_(1601910_ ?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 1,566,694 | 1,601,910 |
| nssv15649337 | Submitted genomic | NC_000017.10:g.(?_ 1469988)_(1505204_ ?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 1,469,988 | 1,505,204 |