nsv4349911
- 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:8,267,491
- Description:GRCh37/hg19 12q24.31-24.33(chr12:125451405-133810935) 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: 34205 SVs from 130 studies. See in: genome view
Overlapping variant regions from other studies: 34022 SVs from 130 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4349911 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 124,966,859 | 133,234,349 |
| nsv4349911 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 125,451,405 | 133,810,935 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15605989 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000767827.1, VCV000625819.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15605989 | Remapped | Good | NC_000012.12:g.(?_ 124966859)_(133234 349_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 124,966,859 | 133,234,349 |
| nssv15605989 | Submitted genomic | NC_000012.11:g.(?_ 125451405)_(133810 935_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 125,451,405 | 133,810,935 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15605989 | GRCh37: NC_000012.11:g.(?_125451405)_(133810935_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV000767827.1, VCV000625819.1 |