nsv4728266
- 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:940,678
- Description:GRCh37/hg19 Xq23-24(chrX:116222262-117162934)x3 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: 1680 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 1677 SVs from 68 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4728266 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 117,088,294 | 118,028,971 |
| nsv4728266 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 116,222,262 | 117,162,934 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16254371 | copy number gain | Multiple | Multiple | not provided | Likely benign | ClinVar | RCV001259493.1, VCV000980317.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16254371 | Remapped | Good | NC_000023.11:g.(?_ 117088294)_(118028 971_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 117,088,294 | 118,028,971 |
| nssv16254371 | Submitted genomic | NC_000023.10:g.(?_ 116222262)_(117162 934_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 116,222,262 | 117,162,934 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16254371 | GRCh37: NC_000023.10:g.(?_116222262)_(117162934_?)dup | copy number gain | germline | not provided | Likely benign | ClinVar | RCV001259493.1, VCV000980317.1 | 3 |