nsv3882842
- 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:21,881,558
- Description:GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)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: 62240 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 62250 SVs from 134 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3882842 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 34,567,849 | 56,449,406 |
| nsv3882842 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 34,792,916 | 56,676,541 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15152721 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000682169.1, VCV000562680.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15152721 | Remapped | Good | NC_000002.12:g.(?_ 34567849)_(5644940 6_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 34,567,849 | 56,449,406 |
| nssv15152721 | Submitted genomic | NC_000002.11:g.(?_ 34792916)_(5667654 1_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 34,792,916 | 56,676,541 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15152721 | GRCh37: NC_000002.11:g.(?_34792916)_(56676541_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV000682169.1, VCV000562680.1 | 3 |