nsv3890662
- 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:665,945
- Description:GRCh37/hg19 12q24.31(chr12:121441298-122107345)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: 2225 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 2226 SVs from 88 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3890662 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 121,003,495 | 121,669,439 |
| nsv3890662 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 121,441,298 | 122,107,345 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15142733 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000447978.3, VCV000394621.3 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15142733 | Remapped | Good | NC_000012.12:g.(?_ 121003495)_(121669 439_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 121,003,495 | 121,669,439 |
| nssv15142733 | Submitted genomic | NC_000012.11:g.(?_ 121441298)_(122107 345_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 121,441,298 | 122,107,345 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15142733 | GRCh37: NC_000012.11:g.(?_121441298)_(122107345_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000447978.3, VCV000394621.3 | 3 |