nsv4376449
- 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:46,425
- 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: 630 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 610 SVs from 61 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4376449 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 135,624,073 | 135,670,497 |
| nsv4376449 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 134,757,998 | 134,804,212 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15640767 | copy number gain | 14-0382-001 | SNP array | Genotyping | 30 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15640767 | Remapped | Good | NC_000023.11:g.(?_ 135624073)_(135670 497_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 135,624,073 | 135,670,497 |
| nssv15640767 | Submitted genomic | NC_000023.10:g.(?_ 134757998)_(134804 212_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 134,757,998 | 134,804,212 |