nsv3924033
- 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:6,440,116
- Description:GRCh38/hg38 14q23.1-23.2(chr14:57653413-64093528)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: 15860 SVs from 117 studies. See in: genome view
Overlapping variant regions from other studies: 15862 SVs from 117 studies. See in: genome view
Overlapping variant regions from other studies: 3967 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3924033 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 57,653,413 | 64,093,528 |
| nsv3924033 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 58,120,131 | 64,560,246 |
| nsv3924033 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 57,189,884 | 63,629,999 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147456 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000138348.6, VCV000149300.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147456 | Submitted genomic | NC_000014.9:g.(?_5 7653413)_(64093528 _?)del | GRCh38 (hg38) | NC_000014.9 | Chr14 | 57,653,413 | 64,093,528 |
| nssv15147456 | Submitted genomic | NC_000014.8:g.(?_5 8120131)_(64560246 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 58,120,131 | 64,560,246 |
| nssv15147456 | Submitted genomic | NC_000014.7:g.(?_5 7189884)_(63629999 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 57,189,884 | 63,629,999 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147456 | GRCh37: NC_000014.8:g.(?_58120131)_(64560246_?)del, GRCh38: NC_000014.9:g.(?_57653413)_(64093528_?)del, NCBI36: NC_000014.7:g.(?_57189884)_(63629999_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000138348.6, VCV000149300.2 | 1 |