nsv4728524
- 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:356,970
- Description:GRCh37/hg19 Xq13.1(chrX:70386654-70743623)x2 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 685 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 685 SVs from 54 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4728524 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 71,166,804 | 71,523,773 |
nsv4728524 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 70,386,654 | 70,743,623 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv17955540 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV001780080.1, VCV001322000.1 | 2 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17955540 | Remapped | Perfect | NC_000023.11:g.(71 166804_?)_(?_71523 773)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 71,166,804 | 71,523,773 |
nssv17955540 | Submitted genomic | NC_000023.10:g.(70 386654_?)_(?_70743 623)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 70,386,654 | 70,743,623 |
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 |
---|---|---|---|---|---|---|---|---|
nssv17955540 | GRCh37: NC_000023.10:g.(70386654_?)_(?_70743623)dup | copy number gain | unknown | See cases | Uncertain significance | ClinVar | RCV001780080.1, VCV001322000.1 | 2 |