nsv4348793
- 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:7,997,275
- Description:GRCh37/hg19 12p13.33-13.31(chr12:237588-8278292) 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: 28680 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 28561 SVs from 132 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4348793 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 128,422 | 8,125,696 |
| nsv4348793 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 237,588 | 8,278,292 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15605982 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000767818.1, VCV000625810.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15605982 | Remapped | Good | NC_000012.12:g.(?_ 128422)_(8125696_? )dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 128,422 | 8,125,696 |
| nssv15605982 | Submitted genomic | NC_000012.11:g.(?_ 237588)_(8278292_? )dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 237,588 | 8,278,292 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15605982 | GRCh37: NC_000012.11:g.(?_237588)_(8278292_?)dup | copy number gain | de novo | not provided | Pathogenic | ClinVar | RCV000767818.1, VCV000625810.1 |