nsv4769278
- 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:312,937
- Description:GRCh37/hg19 Xp21.1(chrX:31593373-31906309)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: 710 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 710 SVs from 51 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4769278 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 31,575,256 | 31,888,192 |
nsv4769278 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 31,593,373 | 31,906,309 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv16297077 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001270671.4, VCV000988941.4 | 0 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16297077 | Remapped | Perfect | NC_000023.11:g.315 75256_31888192del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 31,575,256 | 31,888,192 |
nssv16297077 | Submitted genomic | NC_000023.10:g.315 93373_31906309del | GRCh37 (hg19) | NC_000023.10 | ChrX | 31,593,373 | 31,906,309 |
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 |
---|---|---|---|---|---|---|---|---|
nssv16297077 | GRCh37: NC_000023.10:g.31593373_31906309del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV001270671.4, VCV000988941.4 | 0 |