nsv3912402
- 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:1,941,025
- Description:GRCh38/hg38 14q11.2(chr14:21010790-22951814)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: 9916 SVs from 119 studies. See in: genome view
Overlapping variant regions from other studies: 10107 SVs from 120 studies. See in: genome view
Overlapping variant regions from other studies: 2681 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3912402 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 21,010,790 | 22,951,814 |
| nsv3912402 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 21,478,949 | 23,421,023 |
| nsv3912402 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 20,548,789 | 22,490,863 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15138114 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000140829.4, VCV000152232.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15138114 | Submitted genomic | NC_000014.9:g.(?_2 1010790)_(22951814 _?)dup | GRCh38 (hg38) | NC_000014.9 | Chr14 | 21,010,790 | 22,951,814 |
| nssv15138114 | Submitted genomic | NC_000014.8:g.(?_2 1478949)_(23421023 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 21,478,949 | 23,421,023 |
| nssv15138114 | Submitted genomic | NC_000014.7:g.(?_2 0548789)_(22490863 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 20,548,789 | 22,490,863 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15138114 | GRCh37: NC_000014.8:g.(?_21478949)_(23421023_?)dup, GRCh38: NC_000014.9:g.(?_21010790)_(22951814_?)dup, NCBI36: NC_000014.7:g.(?_20548789)_(22490863_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000140829.4, VCV000152232.2 | 3 |