nsv7098945
- 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:1,498,256
- Description:GRCh38/hg38 7q11.23(chr7:73229597-74727852) 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: 4769 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 4726 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 2312 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 | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7098945 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 73,229,597 | 74,727,852 | ||
| nsv7098945 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000007.13 | Chr7 | 72,643,631 | 74,142,190 |
| nsv7098945 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 758,833 | 2,257,088 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18792672 | copy number loss | Multiple | Multiple | WILLIAMS-BEUREN SYNDROME; WBS; Williams Syndrome; Williams syndrome; Williams syndrome | Pathogenic | ClinVar | RCV003223593.1, VCV002499666.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18792672 | Submitted genomic | NC_000007.14:g.(?_ 73229597)_(7472785 2_?)del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 73,229,597 | 74,727,852 | ||
| nssv18792672 | Remapped | Perfect | NW_003871064.1:g.( ?_758833)_(2257088 _?)del | GRCh37.p13 | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 758,833 | 2,257,088 |
| nssv18792672 | Remapped | Good | NC_000007.13:g.(?_ 72643631)_(7414219 0_?)del | GRCh37.p13 | Second Pass | NC_000007.13 | Chr7 | 72,643,631 | 74,142,190 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18792672 | GRCh38: NC_000007.14:g.(?_73229597)_(74727852_?)del | copy number loss | unknown | WILLIAMS-BEUREN SYNDROME; WBS; Williams Syndrome; Williams syndrome; Williams syndrome | Pathogenic | ClinVar | RCV003223593.1, VCV002499666.1 |