nsv4728231
- 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:9,539,756
- Description:GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)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: 21027 SVs from 120 studies. See in: genome view
Overlapping variant regions from other studies: 21032 SVs from 120 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4728231 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 173,193,362 | 182,733,117 |
| nsv4728231 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 173,162,501 | 182,702,252 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16254832 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001258487.1, VCV000979311.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16254832 | Remapped | Perfect | NC_000001.11:g.(?_ 173193362)_(182733 117_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 173,193,362 | 182,733,117 |
| nssv16254832 | Submitted genomic | NC_000001.10:g.(?_ 173162501)_(182702 252_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 173,162,501 | 182,702,252 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16254832 | GRCh37: NC_000001.10:g.(?_173162501)_(182702252_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV001258487.1, VCV000979311.1 | 3 |