nsv4379288
- 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:33,689
- 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: 256 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 256 SVs from 45 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4379288 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 80,450,914 | 80,484,602 |
| nsv4379288 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 80,484,811 | 80,518,499 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15659713 | copy number loss | 4-0070-003 | SNP array | Genotyping | 24 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15659713 | Remapped | Perfect | NC_000016.10:g.(?_ 80450914)_(8048460 2_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 80,450,914 | 80,484,602 |
| nssv15659713 | Submitted genomic | NC_000016.9:g.(?_8 0484811)_(80518499 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 80,484,811 | 80,518,499 |