nsv6137788
- 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:18,860,197
- Description:GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)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: 52825 SVs from 135 studies. See in: genome view
Overlapping variant regions from other studies: 52852 SVs from 135 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6137788 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 24,378,949 | 43,239,145 |
| nsv6137788 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 24,601,818 | 43,466,284 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17683481 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV001581099.2, VCV001220534.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17683481 | Remapped | Good | NC_000002.12:g.(?_ 24378949)_(4323914 5_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 24,378,949 | 43,239,145 |
| nssv17683481 | Submitted genomic | NC_000002.11:g.(?_ 24601818)_(4346628 4_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 24,601,818 | 43,466,284 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17683481 | GRCh37: NC_000002.11:g.(?_24601818)_(43466284_?)dup | copy number gain | inherited | See cases | Pathogenic | ClinVar | RCV001581099.2, VCV001220534.2 | 3 |