nsv4728711
- 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:4,607,416
- Description:GRCh37/hg19 1q23.3-24.2(chr1:164608682-169216098)x1 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: 10556 SVs from 112 studies. See in: genome view
Overlapping variant regions from other studies: 10561 SVs from 112 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4728711 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 164,639,445 | 169,246,860 |
| nsv4728711 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 164,608,682 | 169,216,098 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16254825 | copy number loss | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV001258478.1, VCV000979302.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16254825 | Remapped | Perfect | NC_000001.11:g.(?_ 164639445)_(169246 860_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 164,639,445 | 169,246,860 |
| nssv16254825 | Submitted genomic | NC_000001.10:g.(?_ 164608682)_(169216 098_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 164,608,682 | 169,216,098 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16254825 | GRCh37: NC_000001.10:g.(?_164608682)_(169216098_?)del | copy number loss | germline | not provided | Likely pathogenic | ClinVar | RCV001258478.1, VCV000979302.1 | 1 |