nsv3885965
- 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:155,676,927
- Description:GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)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: 233635 SVs from 119 studies. See in: genome view
Overlapping variant regions from other studies: 232866 SVs from 119 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3885965 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 265,112 | 155,942,038 |
| nsv3885965 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 181,779 | 155,171,702 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15175301 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000753278.2, VCV000616642.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15175301 | Remapped | Good | NC_000023.11:g.(?_ 265112)_(155942038 _?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 265,112 | 155,942,038 |
| nssv15175301 | Submitted genomic | NC_000023.10:g.(?_ 181779)_(155171702 _?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 181,779 | 155,171,702 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15175301 | GRCh37: NC_000023.10:g.(?_181779)_(155171702_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV000753278.2, VCV000616642.2 | 1 |