nsv7137102
- 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:1,455,441
- Description:GRCh37/hg19 7q11.23(chr7:72717395-74173168) 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: 4755 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 4747 SVs from 102 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7137102 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 73,303,398 | 74,758,838 |
| nsv7137102 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 72,717,395 | 74,173,168 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18830737 | copy number loss | Multiple | Multiple | WILLIAMS-BEUREN SYNDROME; WBS; Williams Syndrome; Williams syndrome; Williams syndrome | Pathogenic | ClinVar | RCV003236746.1, VCV002506562.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18830737 | Remapped | Good | NC_000007.14:g.(?_ 73303398)_(7475883 8_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 73,303,398 | 74,758,838 |
| nssv18830737 | Submitted genomic | NC_000007.13:g.(?_ 72717395)_(7417316 8_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 72,717,395 | 74,173,168 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18830737 | GRCh37: NC_000007.13:g.(?_72717395)_(74173168_?)del | copy number loss | de novo | WILLIAMS-BEUREN SYNDROME; WBS; Williams Syndrome; Williams syndrome; Williams syndrome | Pathogenic | ClinVar | RCV003236746.1, VCV002506562.1 |