nsv6636179
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1,165,944
- Description:GRCh37/hg19 Xp22.33(chrX:168547-1536716)x1 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 10721 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 10287 SVs from 66 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6636179 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 251,880 | 1,417,823 |
| nsv6636179 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 168,547 | 1,536,716 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18330312 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV002474572.1, VCV001808727.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18330312 | Remapped | Pass | NC_000023.11:g.(?_ 251880)_(1417823_? )del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 251,880 | 1,417,823 |
| nssv18330312 | Submitted genomic | NC_000023.10:g.(?_ 168547)_(1536716_? )del | GRCh37 (hg19) | NC_000023.10 | ChrX | 168,547 | 1,536,716 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18330312 | GRCh37: NC_000023.10:g.(?_168547)_(1536716_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV002474572.1, VCV001808727.1 | 1 |