nsv4455075
- 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:166,475
- Description:GRCh37/hg19 14q24.3(chr14:75938193-76104307)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: 485 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 476 SVs from 52 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4455075 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 75,471,490 | 75,637,964 |
| nsv4455075 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 75,938,193 | 76,104,307 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15777236 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000849520.2, VCV000688829.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15777236 | Remapped | Good | NC_000014.9:g.(?_7 5471490)_(75637964 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 75,471,490 | 75,637,964 |
| nssv15777236 | Submitted genomic | NC_000014.8:g.(?_7 5938193)_(76104307 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 75,938,193 | 76,104,307 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15777236 | GRCh37: NC_000014.8:g.(?_75938193)_(76104307_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV000849520.2, VCV000688829.2 | 3 |