nsv4346684
- 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:15,427,090
- Description:GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325) 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: 35455 SVs from 135 studies. See in: genome view
Overlapping variant regions from other studies: 35451 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4346684 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 160,400,100 | 175,827,189 |
| nsv4346684 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 160,369,890 | 175,796,325 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15606086 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000767779.1, VCV000625771.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15606086 | Remapped | Good | NC_000001.11:g.(?_ 160400100)_(175827 189_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 160,400,100 | 175,827,189 |
| nssv15606086 | Submitted genomic | NC_000001.10:g.(?_ 160369890)_(175796 325_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 160,369,890 | 175,796,325 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15606086 | GRCh37: NC_000001.10:g.(?_160369890)_(175796325_?)del | copy number loss | de novo | not provided | Pathogenic | ClinVar | RCV000767779.1, VCV000625771.1 |