nsv4347615
- 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:11,587,043
- Description:GRCh37/hg19 3q22.2-24(chr3:135288025-146874012) 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: 27096 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 27111 SVs from 122 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4347615 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 135,569,183 | 147,156,225 |
| nsv4347615 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 135,288,025 | 146,874,012 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15605887 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000767703.1, VCV000625695.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15605887 | Remapped | Good | NC_000003.12:g.(?_ 135569183)_(147156 225_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 135,569,183 | 147,156,225 |
| nssv15605887 | Submitted genomic | NC_000003.11:g.(?_ 135288025)_(146874 012_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 135,288,025 | 146,874,012 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15605887 | GRCh37: NC_000003.11:g.(?_135288025)_(146874012_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV000767703.1, VCV000625695.1 |