nsv6290670
- 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:7,756,549
- Description:GRCh37/hg19 Xq21.1-21.31(chrX:78558916-86314970)x2 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: 11454 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 11435 SVs from 91 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6290670 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 79,303,419 | 87,059,967 |
| nsv6290670 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 78,558,916 | 86,314,970 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17957185 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001834462.1, VCV001341135.1 | 2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17957185 | Remapped | Good | NC_000023.11:g.(?_ 79303419)_(8705996 7_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 79,303,419 | 87,059,967 |
| nssv17957185 | Submitted genomic | NC_000023.10:g.(?_ 78558916)_(8631497 0_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 78,558,916 | 86,314,970 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17957185 | GRCh37: NC_000023.10:g.(?_78558916)_(86314970_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001834462.1, VCV001341135.1 | 2 |