nsv6313910
- 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:258,534
- Description:GRCh37/hg19 12p12.1(chr12:21759357-22017890) 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: 707 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 707 SVs from 71 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6313910 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 21,606,423 | 21,864,956 |
| nsv6313910 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 21,759,357 | 22,017,890 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969516 | copy number gain | Multiple | Multiple | not specified | Uncertain significance | ClinVar | RCV002052980.3, VCV001527694.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969516 | Remapped | Perfect | NC_000012.12:g.(?_ 21606423)_(2186495 6_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 21,606,423 | 21,864,956 |
| nssv17969516 | Submitted genomic | NC_000012.11:g.(?_ 21759357)_(2201789 0_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 21,759,357 | 22,017,890 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969516 | GRCh37: NC_000012.11:g.(?_21759357)_(22017890_?)dup | copy number gain | germline | not specified | Uncertain significance | ClinVar | RCV002052980.3, VCV001527694.3 |