nsv3922094
- 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:33,223,527
- Description:GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)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: 108198 SVs from 143 studies. See in: genome view
Overlapping variant regions from other studies: 105861 SVs from 143 studies. See in: genome view
Overlapping variant regions from other studies: 30963 SVs from 40 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3922094 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 73,655,772 | 106,879,298 |
| nsv3922094 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 74,122,475 | 107,287,505 |
| nsv3922094 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 73,192,228 | 106,358,550 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161760 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000134000.5, VCV000144518.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161760 | Submitted genomic | NC_000014.9:g.(?_7 3655772)_(10687929 8_?)dup | GRCh38 (hg38) | NC_000014.9 | Chr14 | 73,655,772 | 106,879,298 |
| nssv15161760 | Submitted genomic | NC_000014.8:g.(?_7 4122475)_(10728750 5_?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 74,122,475 | 107,287,505 |
| nssv15161760 | Submitted genomic | NC_000014.7:g.(?_7 3192228)_(10635855 0_?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 73,192,228 | 106,358,550 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161760 | GRCh37: NC_000014.8:g.(?_74122475)_(107287505_?)dup, GRCh38: NC_000014.9:g.(?_73655772)_(106879298_?)dup, NCBI36: NC_000014.7:g.(?_73192228)_(106358550_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000134000.5, VCV000144518.2 | 3 |