nsv6634402
- 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:1,342,212
- Description:GRCh37/hg19 2q21.1-21.2(chr2:131853044-133195255)x3 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 5066 SVs from 117 studies. See in: genome view
Overlapping variant regions from other studies: 5215 SVs from 117 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6634402 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 131,095,471 | 132,437,682 |
| nsv6634402 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 131,853,044 | 133,195,255 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18326387 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV002292205.1, VCV001710918.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18326387 | Remapped | Perfect | NC_000002.12:g.(13 1095471_?)_(?_1324 37682)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 131,095,471 | 132,437,682 |
| nssv18326387 | Submitted genomic | NC_000002.11:g.(13 1853044_?)_(?_1331 95255)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 131,853,044 | 133,195,255 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18326387 | GRCh37: NC_000002.11:g.(131853044_?)_(?_133195255)dup | copy number gain | unknown | See cases | Uncertain significance | ClinVar | RCV002292205.1, VCV001710918.1 | 3 |