nsv6636033
- 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:310,176
- 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: 749 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 749 SVs from 53 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv6636033 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 31,658,154 | 31,679,365 | 31,932,237 | 31,968,329 |
nsv6636033 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 31,676,271 | 31,697,482 | 31,950,354 | 31,986,446 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv18329047 | deletion | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV002475209.1, VCV001807252.1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv18329047 | Remapped | Perfect | NC_000023.11:g.(31 658154_31679365)_( 31932237_31968329) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 31,658,154 | 31,679,365 | 31,932,237 | 31,968,329 |
nssv18329047 | Submitted genomic | NC_000023.10:g.(31 676271_31697482)_( 31950354_31986446) del | GRCh37 (hg19) | NC_000023.10 | ChrX | 31,676,271 | 31,697,482 | 31,950,354 | 31,986,446 |
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 |
---|---|---|---|---|---|---|---|
nssv18329047 | GRCh37: NC_000023.10:g.(31676271_31697482)_(31950354_31986446)del | deletion | unknown | not provided | Pathogenic | ClinVar | RCV002475209.1, VCV001807252.1 |