nsv6313906
- 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:3,216,362
- Description:GRCh37/hg19 19q13.33-13.41(chr19:49911081-53127438) 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: 12008 SVs from 117 studies. See in: genome view
Overlapping variant regions from other studies: 12009 SVs from 117 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6313906 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 49,407,824 | 52,624,185 |
| nsv6313906 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 49,911,081 | 53,127,438 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969225 | copy number gain | Multiple | Multiple | not specified | Likely pathogenic | ClinVar | RCV002052689.3, VCV001526670.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969225 | Remapped | Perfect | NC_000019.10:g.(?_ 49407824)_(5262418 5_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 49,407,824 | 52,624,185 |
| nssv17969225 | Submitted genomic | NC_000019.9:g.(?_4 9911081)_(53127438 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 49,911,081 | 53,127,438 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969225 | GRCh37: NC_000019.9:g.(?_49911081)_(53127438_?)dup | copy number gain | germline | not specified | Likely pathogenic | ClinVar | RCV002052689.3, VCV001526670.3 |