nsv4365802
- 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:368,668
- 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: 1576 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 1769 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 2614 SVs from 117 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4365802 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 2,475,295 | 2,732,462 |
| nsv4365802 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 440,511 | 809,178 |
| nsv4365802 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 2,205,301 | 2,589,993 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15678440 | copy number gain | 192711 | SNP array | Genotyping | 20 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15678440 | Remapped | Good | NT_187576.1:g.(?_4 40511)_(809178_?)d up | GRCh38.p12 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 440,511 | 809,178 |
| nssv15678440 | Remapped | Pass | NC_000008.11:g.(?_ 2475295)_(2732462_ ?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 2,475,295 | 2,732,462 |
| nssv15678440 | Submitted genomic | NC_000008.10:g.(?_ 2205301)_(2589993_ ?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 2,205,301 | 2,589,993 |