nsv3893663
- 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:9,013
- Description:GRCh37/hg19 12q24.33(chr12:132623473-132632485)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: 213 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 212 SVs from 43 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3893663 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 132,138,928 | 132,147,940 |
| nsv3893663 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 132,623,473 | 132,632,485 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15160094 | copy number gain | Multiple | Multiple | not provided | Benign | ClinVar | RCV000738108.2, VCV000601472.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15160094 | Remapped | Perfect | NC_000012.12:g.(?_ 132138928)_(132147 940_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,138,928 | 132,147,940 |
| nssv15160094 | Submitted genomic | NC_000012.11:g.(?_ 132623473)_(132632 485_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 132,623,473 | 132,632,485 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15160094 | GRCh37: NC_000012.11:g.(?_132623473)_(132632485_?)dup | copy number gain | unknown | not provided | Benign | ClinVar | RCV000738108.2, VCV000601472.2 | 3 |