nsv4349480
- 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:6,764,146
- Description:GRCh37/hg19 14q32.2-32.33(chr14:100575917-107281934) 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: 38751 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 36417 SVs from 133 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4349480 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 100,109,580 | 106,873,725 |
| nsv4349480 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 100,575,917 | 107,281,934 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15606082 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000767752.1, VCV000625744.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15606082 | Remapped | Good | NC_000014.9:g.(?_1 00109580)_(1068737 25_?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 100,109,580 | 106,873,725 |
| nssv15606082 | Submitted genomic | NC_000014.8:g.(?_1 00575917)_(1072819 34_?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 100,575,917 | 107,281,934 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15606082 | GRCh37: NC_000014.8:g.(?_100575917)_(107281934_?)dup | copy number gain | de novo | not provided | Pathogenic | ClinVar | RCV000767752.1, VCV000625744.1 |