nsv4674038
- 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:923,985
- Description:GRCh37/hg19 Xq22.3(chrX:104728884-105652106)x0 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: 1259 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 1243 SVs from 73 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4674038 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 105,484,892 | 106,408,876 |
| nsv4674038 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 104,728,884 | 105,652,106 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16209027 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001007331.1, VCV000816377.1 | 0 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16209027 | Remapped | Good | NC_000023.11:g.(?_ 105484892)_(106408 876_?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 105,484,892 | 106,408,876 |
| nssv16209027 | Submitted genomic | NC_000023.10:g.(?_ 104728884)_(105652 106_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 104,728,884 | 105,652,106 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16209027 | GRCh37: NC_000023.10:g.(?_104728884)_(105652106_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001007331.1, VCV000816377.1 | 0 |