nsv3917422
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:86,704,115
- Description:GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)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: 255429 SVs from 148 studies. See in: genome view
Overlapping variant regions from other studies: 253267 SVs from 148 studies. See in: genome view
Overlapping variant regions from other studies: 68307 SVs from 41 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3917422 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 20,151,149 | 106,855,263 |
| nsv3917422 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 20,619,308 | 107,263,478 |
| nsv3917422 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 19,689,148 | 106,334,523 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161067 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000135543.6, VCV000146230.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161067 | Submitted genomic | NC_000014.9:g.(?_2 0151149)_(10685526 3_?)dup | GRCh38 (hg38) | NC_000014.9 | Chr14 | 20,151,149 | 106,855,263 |
| nssv15161067 | Submitted genomic | NC_000014.8:g.(?_2 0619308)_(10726347 8_?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,619,308 | 107,263,478 |
| nssv15161067 | Submitted genomic | NC_000014.7:g.(?_1 9689148)_(10633452 3_?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 19,689,148 | 106,334,523 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161067 | GRCh37: NC_000014.8:g.(?_20619308)_(107263478_?)dup, GRCh38: NC_000014.9:g.(?_20151149)_(106855263_?)dup, NCBI36: NC_000014.7:g.(?_19689148)_(106334523_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000135543.6, VCV000146230.2 | 3 |