nsv6313135
- 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:1,112,689
- Description:GRCh37/hg19 Xq23-24(chrX:115996197-117108880) AND not specified
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 2118 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 2113 SVs from 71 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6313135 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 116,862,229 | 117,974,917 |
| nsv6313135 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 115,996,197 | 117,108,880 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969706 | copy number gain | Multiple | Multiple | not specified | Uncertain significance | ClinVar | RCV002053178.3, VCV001526846.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969706 | Remapped | Perfect | NC_000023.11:g.(?_ 116862229)_(117974 917_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 116,862,229 | 117,974,917 |
| nssv17969706 | Submitted genomic | NC_000023.10:g.(?_ 115996197)_(117108 880_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 115,996,197 | 117,108,880 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969706 | GRCh37: NC_000023.10:g.(?_115996197)_(117108880_?)dup | copy number gain | germline | not specified | Uncertain significance | ClinVar | RCV002053178.3, VCV001526846.3 |