nsv6636351
- 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:152,841
- Description:GRCh37/hg19 Xq21.2(chrX:85478159-85630999)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: 353 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 353 SVs from 58 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6636351 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 86,223,156 | 86,375,996 |
| nsv6636351 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 85,478,159 | 85,630,999 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18329477 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002472411.1, VCV001807605.1 | 0 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18329477 | Remapped | Perfect | NC_000023.11:g.(?_ 86223156)_(8637599 6_?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 86,223,156 | 86,375,996 |
| nssv18329477 | Submitted genomic | NC_000023.10:g.(?_ 85478159)_(8563099 9_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 85,478,159 | 85,630,999 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18329477 | GRCh37: NC_000023.10:g.(?_85478159)_(85630999_?)del | copy number loss | unknown | not provided | Uncertain significance | ClinVar | RCV002472411.1, VCV001807605.1 | 0 |