nsv6290583
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1,425,944
- Description:Single allele 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: 2962 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 2112 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 1040 SVs from 44 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv6290583 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 154,612,552 | 154,656,872 | 156,005,236 | 156,038,495 | ||
| nsv6290583 | Remapped | Pass | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 153,840,805 | 153,840,805 | 154,906,585 | - |
| nsv6290583 | Remapped | Pass | GRCh37.p13 | PATCHES | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 2,046,531 | 2,090,851 | 3,110,903 | - |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17956472 | deletion | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001839140.1, VCV001342389.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv17956472 | Submitted genomic | NC_000023.11:g.(15 4612552_154656872) _(156005236_156038 495)del | GRCh38 (hg38) | NC_000023.11 | ChrX | 154,612,552 | 154,656,872 | 156,005,236 | 156,038,495 | ||
| nssv17956472 | Remapped | Pass | NW_003871103.3:g.( 2046531_2090851)_( 3110903_?)del | GRCh37.p13 | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 2,046,531 | 2,090,851 | 3,110,903 | - |
| nssv17956472 | Remapped | Pass | NC_000023.10:g.(15 3840805_153840805) _(154906585_?)del | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 153,840,805 | 153,840,805 | 154,906,585 | - |
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 |
|---|---|---|---|---|---|---|---|
| nssv17956472 | GRCh38: NC_000023.11:g.(154612552_154656872)_(156005236_156038495)del | deletion | de novo | not provided | Pathogenic | ClinVar | RCV001839140.1, VCV001342389.1 |