nsv4728409
- 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:800,689
- Description:GRCh37/hg19 2q24.2(chr2:162620633-163421321)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: 1333 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 1333 SVs from 69 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4728409 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 161,764,123 | 162,564,811 |
| nsv4728409 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 162,620,633 | 163,421,321 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16255560 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001259777.1, VCV000980601.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16255560 | Remapped | Perfect | NC_000002.12:g.(?_ 161764123)_(162564 811_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 161,764,123 | 162,564,811 |
| nssv16255560 | Submitted genomic | NC_000002.11:g.(?_ 162620633)_(163421 321_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 162,620,633 | 163,421,321 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16255560 | GRCh37: NC_000002.11:g.(?_162620633)_(163421321_?)del | copy number loss | germline | not provided | Uncertain significance | ClinVar | RCV001259777.1, VCV000980601.1 | 1 |