nsv6637402
- 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:527,700
- Description:GRCh37/hg19 12q24.31(chr12:122737779-123265478)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: 2231 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 2231 SVs from 82 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637402 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 122,253,232 | 122,780,931 |
| nsv6637402 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 122,737,779 | 123,265,478 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18330813 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002472674.1, VCV001807868.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18330813 | Remapped | Perfect | NC_000012.12:g.(?_ 122253232)_(122780 931_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 122,253,232 | 122,780,931 |
| nssv18330813 | Submitted genomic | NC_000012.11:g.(?_ 122737779)_(123265 478_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 122,737,779 | 123,265,478 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18330813 | GRCh37: NC_000012.11:g.(?_122737779)_(123265478_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV002472674.1, VCV001807868.1 | 3 |