nsv4379282
- 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:63,784
- 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: 375 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 376 SVs from 42 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4379282 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 42,147,753 | 42,211,536 |
| nsv4379282 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 39,727,717 | 39,791,501 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15652832 | copy number loss | 2-1548-003 | SNP array | Genotyping | 27 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15652832 | Remapped | Good | NC_000018.10:g.(?_ 42147753)_(4221153 6_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 42,147,753 | 42,211,536 |
| nssv15652832 | Submitted genomic | NC_000018.9:g.(?_3 9727717)_(39791501 _?)del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 39,727,717 | 39,791,501 |