nsv5380997
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:457,733
- Description:
See descriptions for individual calls in download files - 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: 2027 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 2027 SVs from 83 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5380997 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 3,879,812 | 4,337,544 |
| nsv5380997 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 3,929,813 | 4,387,545 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16866416 | duplication | Multiple | Multiple | Rubinstein-Taybi Syndrome; Rubinstein-Taybi syndrome; Rubinstein-Taybi syndrome | Uncertain significance | ClinVar | RCV001308817.3, VCV001011075.3 |
| nssv17173176 | duplication | Multiple | Multiple | RUBINSTEIN-TAYBI SYNDROME 1; RSTS1; Rubinstein-Taybi Syndrome; Rubinstein-Taybi syndrome; Rubinstein-Taybi syndrome 1; See individual phenotypes in OMIM allelic variants | Uncertain significance | ClinVar | RCV000708038.1, VCV001011075.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16866416 | Remapped | Perfect | NC_000016.10:g.(?_ 3879812)_(4337544_ ?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 3,879,812 | 4,337,544 |
| nssv17173176 | Remapped | Perfect | NC_000016.10:g.(?_ 3879812)_(4337544_ ?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 3,879,812 | 4,337,544 |
| nssv16866416 | Submitted genomic | NC_000016.9:g.(?_3 929813)_(4387545_? )dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 3,929,813 | 4,387,545 | ||
| nssv17173176 | Submitted genomic | NC_000016.9:g.(?_3 929813)_(4387545_? )dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 3,929,813 | 4,387,545 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16866416 | GRCh37: NC_000016.9:g.(?_3929813)_(4387545_?)dup | duplication | germline | Rubinstein-Taybi Syndrome; Rubinstein-Taybi syndrome; Rubinstein-Taybi syndrome | Uncertain significance | ClinVar | RCV001308817.3, VCV001011075.3 |
| nssv17173176 | GRCh37: NC_000016.9:g.(?_3929813)_(4387545_?)dup | duplication | germline | RUBINSTEIN-TAYBI SYNDROME 1; RSTS1; Rubinstein-Taybi Syndrome; Rubinstein-Taybi syndrome; Rubinstein-Taybi syndrome 1; See individual phenotypes in OMIM allelic variants | Uncertain significance | ClinVar | RCV000708038.1, VCV001011075.3 |