nsv3922652
- 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:10,167,196
- Description:GRCh38/hg38 14q22.3-23.3(chr14:57041036-67208231)x1 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: 24635 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 24637 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 5751 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3922652 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 57,041,036 | 67,208,231 |
| nsv3922652 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 57,507,754 | 67,674,948 |
| nsv3922652 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 56,577,507 | 66,744,701 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146256 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051521.5, VCV000057781.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146256 | Submitted genomic | NC_000014.9:g.(?_5 7041036)_(67208231 _?)del | GRCh38 (hg38) | NC_000014.9 | Chr14 | 57,041,036 | 67,208,231 |
| nssv15146256 | Submitted genomic | NC_000014.8:g.(?_5 7507754)_(67674948 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 57,507,754 | 67,674,948 |
| nssv15146256 | Submitted genomic | NC_000014.7:g.(?_5 6577507)_(66744701 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 56,577,507 | 66,744,701 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146256 | GRCh37: NC_000014.8:g.(?_57507754)_(67674948_?)del, GRCh38: NC_000014.9:g.(?_57041036)_(67208231_?)del, NCBI36: NC_000014.7:g.(?_56577507)_(66744701_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000051521.5, VCV000057781.1 | 1 |