nsv6291353
- 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:34,849,146
- Description:GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)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: 85427 SVs from 147 studies. See in: genome view
Overlapping variant regions from other studies: 85588 SVs from 147 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6291353 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 110,726,891 | 145,576,036 |
| nsv6291353 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 111,484,468 | 146,333,604 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17956135 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001832896.1, VCV001340017.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17956135 | Remapped | Perfect | NC_000002.12:g.(?_ 110726891)_(145576 036_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 110,726,891 | 145,576,036 |
| nssv17956135 | Submitted genomic | NC_000002.11:g.(?_ 111484468)_(146333 604_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 111,484,468 | 146,333,604 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17956135 | GRCh37: NC_000002.11:g.(?_111484468)_(146333604_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV001832896.1, VCV001340017.1 | 3 |