nsv4436746
- 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:2,321,689
- Description:GRCh37/hg19 12q24.33(chr12:131363916-133777645)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: 14026 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 13842 SVs from 122 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4436746 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 130,879,371 | 133,201,059 |
| nsv4436746 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 131,363,916 | 133,777,645 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15755695 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000790570.1, VCV000638102.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15755695 | Remapped | Good | NC_000012.12:g.(?_ 130879371)_(133201 059_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 130,879,371 | 133,201,059 |
| nssv15755695 | Submitted genomic | NC_000012.11:g.(?_ 131363916)_(133777 645_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 131,363,916 | 133,777,645 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15755695 | GRCh37: NC_000012.11:g.(?_131363916)_(133777645_?)dup | copy number gain | unknown | See cases | Pathogenic | ClinVar | RCV000790570.1, VCV000638102.1 | 3 |