nsv7137028
- 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:1,559,000
- Description:Single allele AND Williams syndrome
- Publication(s):Morris et al. 1999, Stout et al. 2019, Warnes et al. 2008
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 4899 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 4848 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 2349 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 | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7137028 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 73,214,501 | 74,773,500 | ||
| nsv7137028 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000007.13 | Chr7 | 72,631,166 | 74,187,847 |
| nsv7137028 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 743,737 | 2,302,736 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18830917 | deletion | Multiple | Multiple | WILLIAMS-BEUREN SYNDROME; WBS; Williams Syndrome; Williams syndrome; Williams syndrome | Pathogenic | ClinVar | RCV003234736.1, VCV002505469.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18830917 | Submitted genomic | NC_000007.14:g.732 14501_74773500del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 73,214,501 | 74,773,500 | ||
| nssv18830917 | Remapped | Perfect | NW_003871064.1:g.7 43737_2302736del | GRCh37.p13 | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 743,737 | 2,302,736 |
| nssv18830917 | Remapped | Good | NC_000007.13:g.726 31166_74187847del | GRCh37.p13 | Second Pass | NC_000007.13 | Chr7 | 72,631,166 | 74,187,847 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18830917 | GRCh38: NC_000007.14:g.73214501_74773500del | deletion | germline | WILLIAMS-BEUREN SYNDROME; WBS; Williams Syndrome; Williams syndrome; Williams syndrome | Pathogenic | ClinVar | RCV003234736.1, VCV002505469.1 |