nsv5381761
- 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:1,593,998
- Description:GRCh37/hg19 7q11.22-11.23(chr7:71847968-73391310) AND Williams syndrome
- Publication(s):Morris et al. 1999, 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: 4334 SVs from 107 studies. See in: genome view
Overlapping variant regions from other studies: 4265 SVs from 106 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5381761 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 72,382,983 | 73,976,980 |
| nsv5381761 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 71,847,968 | 73,391,310 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16867365 | copy number loss | Multiple | Multiple | WILLIAMS-BEUREN SYNDROME; WBS; Williams Syndrome; Williams syndrome; Williams syndrome | Likely pathogenic | ClinVar | RCV001352633.1, VCV001047864.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16867365 | Remapped | Good | NC_000007.14:g.(?_ 72382983)_(7397698 0_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 72,382,983 | 73,976,980 |
| nssv16867365 | Submitted genomic | NC_000007.13:g.(?_ 71847968)_(7339131 0_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 71,847,968 | 73,391,310 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16867365 | GRCh37: NC_000007.13:g.(?_71847968)_(73391310_?)del | copy number loss | de novo | WILLIAMS-BEUREN SYNDROME; WBS; Williams Syndrome; Williams syndrome; Williams syndrome | Likely pathogenic | ClinVar | RCV001352633.1, VCV001047864.1 |