nsv3885544
- 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:242,092,372
- Description:GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)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: 610014 SVs from 154 studies. See in: genome view
Overlapping variant regions from other studies: 609359 SVs from 154 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3885544 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 14,238 | 242,106,609 |
| nsv3885544 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 14,238 | 243,048,760 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15174359 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000752802.2, VCV000616166.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15174359 | Remapped | Good | NC_000002.12:g.(?_ 14238)_(242106609_ ?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 14,238 | 242,106,609 |
| nssv15174359 | Submitted genomic | NC_000002.11:g.(?_ 14238)_(243048760_ ?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 14,238 | 243,048,760 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15174359 | GRCh37: NC_000002.11:g.(?_14238)_(243048760_?)dup | copy number gain | unknown | not provided | Pathogenic | ClinVar | RCV000752802.2, VCV000616166.2 | 3 |