nsv6112680
- 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:18,574,224
- Description:GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)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: 51840 SVs from 135 studies. See in: genome view
Overlapping variant regions from other studies: 51867 SVs from 135 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6112680 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 24,658,659 | 43,232,882 |
| nsv6112680 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 24,881,528 | 43,460,021 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17649985 | copy number gain | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV001532444.9, VCV001176757.10 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17649985 | Remapped | Good | NC_000002.12:g.(?_ 24658659)_(4323288 2_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 24,658,659 | 43,232,882 |
| nssv17649985 | Submitted genomic | NC_000002.11:g.(?_ 24881528)_(4346002 1_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 24,881,528 | 43,460,021 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17649985 | GRCh37: NC_000002.11:g.(?_24881528)_(43460021_?)dup | copy number gain | germline | not provided | Likely pathogenic | ClinVar | RCV001532444.9, VCV001176757.10 | 3 |