nsv4455458
- 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:34,279,074
- Description:GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)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: 105796 SVs from 140 studies. See in: genome view
Overlapping variant regions from other studies: 105653 SVs from 140 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4455458 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 64,620 | 34,343,693 |
| nsv4455458 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 173,786 | 34,496,628 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15772258 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000847209.2, VCV000686501.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15772258 | Remapped | Good | NC_000012.12:g.(?_ 64620)_(34343693_? )dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 64,620 | 34,343,693 |
| nssv15772258 | Submitted genomic | NC_000012.11:g.(?_ 173786)_(34496628_ ?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 173,786 | 34,496,628 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15772258 | GRCh37: NC_000012.11:g.(?_173786)_(34496628_?)dup | copy number gain | unknown | not provided | Pathogenic | ClinVar | RCV000847209.2, VCV000686501.2 | 3 |