nsv6313865
- 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:330,048
- Description:GRCh37/hg19 3q29(chr3:193836939-194169926) AND not specified
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1104 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 1081 SVs from 72 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6313865 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 194,119,150 | 194,449,197 |
| nsv6313865 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 193,836,939 | 194,169,926 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969929 | copy number gain | Multiple | Multiple | not specified | Uncertain significance | ClinVar | RCV002053401.3, VCV001527069.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969929 | Remapped | Good | NC_000003.12:g.(?_ 194119150)_(194449 197_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 194,119,150 | 194,449,197 |
| nssv17969929 | Submitted genomic | NC_000003.11:g.(?_ 193836939)_(194169 926_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 193,836,939 | 194,169,926 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969929 | GRCh37: NC_000003.11:g.(?_193836939)_(194169926_?)dup | copy number gain | germline | not specified | Uncertain significance | ClinVar | RCV002053401.3, VCV001527069.3 |