nsv6638047
- 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:39,647,857
- Description:GRCh37/hg19 13q22.1-34(chr13:75268539-115107733)x3 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 113781 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 113678 SVs from 138 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6638047 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 74,694,402 | 114,342,258 |
| nsv6638047 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 75,268,539 | 115,107,733 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18329603 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV002472537.1, VCV001807731.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18329603 | Remapped | Good | NC_000013.11:g.(?_ 74694402)_(1143422 58_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 74,694,402 | 114,342,258 |
| nssv18329603 | Submitted genomic | NC_000013.10:g.(?_ 75268539)_(1151077 33_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 75,268,539 | 115,107,733 |
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 | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18329603 | GRCh37: NC_000013.10:g.(?_75268539)_(115107733_?)dup | copy number gain | unknown | not provided | Pathogenic | ClinVar | RCV002472537.1, VCV001807731.1 | 3 |