nsv3921292
- 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:15,376,782
- Description:GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)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: 60913 SVs from 139 studies. See in: genome view
Overlapping variant regions from other studies: 58616 SVs from 139 studies. See in: genome view
Overlapping variant regions from other studies: 19771 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3921292 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 91,455,861 | 106,832,642 |
| nsv3921292 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 91,922,205 | 107,240,869 |
| nsv3921292 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 90,991,958 | 106,311,914 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161040 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052296.7, VCV000058527.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161040 | Submitted genomic | NC_000014.9:g.(?_9 1455861)_(10683264 2_?)dup | GRCh38 (hg38) | NC_000014.9 | Chr14 | 91,455,861 | 106,832,642 |
| nssv15161040 | Submitted genomic | NC_000014.8:g.(?_9 1922205)_(10724086 9_?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 91,922,205 | 107,240,869 |
| nssv15161040 | Submitted genomic | NC_000014.7:g.(?_9 0991958)_(10631191 4_?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 90,991,958 | 106,311,914 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161040 | GRCh37: NC_000014.8:g.(?_91922205)_(107240869_?)dup, GRCh38: NC_000014.9:g.(?_91455861)_(106832642_?)dup, NCBI36: NC_000014.7:g.(?_90991958)_(106311914_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000052296.7, VCV000058527.1 | 3 |