nsv4367949
- 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:179,117
- 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: 692 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 692 SVs from 54 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4367949 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 85,735,560 | 85,914,676 |
| nsv4367949 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 84,990,565 | 85,169,681 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15615480 | copy number gain | 1-0775-003 | SNP array | Genotyping | 18 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15615480 | Remapped | Perfect | NC_000023.11:g.(?_ 85735560)_(8591467 6_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 85,735,560 | 85,914,676 |
| nssv15615480 | Submitted genomic | NC_000023.10:g.(?_ 84990565)_(8516968 1_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 84,990,565 | 85,169,681 |