nsv7137005
- 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:1,157
- Description:NC_000006.11:g.(32007026_32007132)_(32007983_3
2008182)del AND Congenital adrenal hyperplasia
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 328 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 328 SVs from 52 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv7137005 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 32,039,249 | 32,039,355 | 32,040,206 | 32,040,405 |
nsv7137005 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 32,007,026 | 32,007,132 | 32,007,983 | 32,008,182 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv18830866 | deletion | Multiple | Multiple | Congenital adrenal hyperplasia; Congenital adrenal hyperplasia | Likely pathogenic | ClinVar | RCV003230923.1, VCV002503932.1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv18830866 | Remapped | Perfect | NC_000006.12:g.(32 039249_32039355)_( 32040206_32040405) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 32,039,249 | 32,039,355 | 32,040,206 | 32,040,405 |
nssv18830866 | Submitted genomic | NC_000006.11:g.(32 007026_32007132)_( 32007983_32008182) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 32,007,026 | 32,007,132 | 32,007,983 | 32,008,182 |
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 |
---|---|---|---|---|---|---|---|
nssv18830866 | GRCh37: NC_000006.11:g.(32007026_32007132)_(32007983_32008182)del | deletion | germline | Congenital adrenal hyperplasia; Congenital adrenal hyperplasia | Likely pathogenic | ClinVar | RCV003230923.1, VCV002503932.1 |