nsv6310074
- 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:636,776
- Description:NC_000016.9:g.(?_3293141)_(3929917_?)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: 2097 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 2098 SVs from 87 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6310074 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 3,243,141 | 3,879,916 |
| nsv6310074 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 3,293,141 | 3,929,917 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17971067 | deletion | Multiple | Multiple | Rubinstein-Taybi Syndrome; Rubinstein-Taybi syndrome; Rubinstein-Taybi syndrome | Pathogenic | ClinVar | RCV001950905.2, VCV001455963.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17971067 | Remapped | Perfect | NC_000016.10:g.(?_ 3243141)_(3879916_ ?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 3,243,141 | 3,879,916 |
| nssv17971067 | Submitted genomic | NC_000016.9:g.(?_3 293141)_(3929917_? )del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 3,293,141 | 3,929,917 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17971067 | GRCh37: NC_000016.9:g.(?_3293141)_(3929917_?)del | deletion | germline | Rubinstein-Taybi Syndrome; Rubinstein-Taybi syndrome; Rubinstein-Taybi syndrome | Pathogenic | ClinVar | RCV001950905.2, VCV001455963.2 |