nsv3883852
- 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:175,831
- Description:GRCh37/hg19 2p22.3(chr2:32515609-32691438)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: 685 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 685 SVs from 65 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3883852 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 32,290,540 | 32,466,370 |
nsv3883852 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 32,515,609 | 32,691,438 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15174683 | copy number gain | Multiple | Multiple | not provided | Benign | ClinVar | RCV000752890.2, VCV000616254.2 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15174683 | Remapped | Good | NC_000002.12:g.(?_ 32290540)_(3246637 0_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 32,290,540 | 32,466,370 |
nssv15174683 | Submitted genomic | NC_000002.11:g.(?_ 32515609)_(3269143 8_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 32,515,609 | 32,691,438 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15174683 | GRCh37: NC_000002.11:g.(?_32515609)_(32691438_?)dup | copy number gain | unknown | not provided | Benign | ClinVar | RCV000752890.2, VCV000616254.2 | 3 |