nsv4453988
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1,074,894
- Description:NC_000016.10:g.(?_3727698)_(4802591_?)del AND Rubinstein-Taybi syndrome
- Publication(s):Stevens et al. 2002
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 3712 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 3712 SVs from 96 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv4453988 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 3,727,698 | 4,802,591 |
| nsv4453988 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 3,777,699 | 4,852,592 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15771738 | deletion | Multiple | Multiple | RUBINSTEIN-TAYBI SYNDROME 1; RSTS1; Rubinstein-Taybi Syndrome; Rubinstein-Taybi syndrome; Rubinstein-Taybi syndrome | Pathogenic | ClinVar | RCV000813975.2, VCV000657383.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15771738 | Submitted genomic | NC_000016.10:g.(?_ 3727698)_(4802591_ ?)del | GRCh38 (hg38) | NC_000016.10 | Chr16 | 3,727,698 | 4,802,591 |
| nssv15771738 | Submitted genomic | NC_000016.9:g.(?_3 777699)_(4852592_? )del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 3,777,699 | 4,852,592 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15771738 | GRCh37: NC_000016.9:g.(?_3777699)_(4852592_?)del, GRCh38: NC_000016.10:g.(?_3727698)_(4802591_?)del | deletion | germline | RUBINSTEIN-TAYBI SYNDROME 1; RSTS1; Rubinstein-Taybi Syndrome; Rubinstein-Taybi syndrome; Rubinstein-Taybi syndrome | Pathogenic | ClinVar | RCV000813975.2, VCV000657383.1 |