nsv3919051
- 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:5,491,847
- Description:GRCh38/hg38 14q24.3-31.1(chr14:73343213-78835059)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: 16516 SVs from 117 studies. See in: genome view
Overlapping variant regions from other studies: 16507 SVs from 117 studies. See in: genome view
Overlapping variant regions from other studies: 4014 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 |
|---|---|---|---|---|---|---|---|
| nsv3919051 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 73,343,213 | 78,835,059 |
| nsv3919051 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 73,809,921 | 79,301,402 |
| nsv3919051 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 72,879,674 | 78,371,155 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161370 | copy number loss | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV000143265.7, VCV000155198.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161370 | Submitted genomic | NC_000014.9:g.(?_7 3343213)_(78835059 _?)del | GRCh38 (hg38) | NC_000014.9 | Chr14 | 73,343,213 | 78,835,059 |
| nssv15161370 | Submitted genomic | NC_000014.8:g.(?_7 3809921)_(79301402 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 73,809,921 | 79,301,402 |
| nssv15161370 | Submitted genomic | NC_000014.7:g.(?_7 2879674)_(78371155 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 72,879,674 | 78,371,155 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161370 | GRCh37: NC_000014.8:g.(?_73809921)_(79301402_?)del, GRCh38: NC_000014.9:g.(?_73343213)_(78835059_?)del, NCBI36: NC_000014.7:g.(?_72879674)_(78371155_?)del | copy number loss | de novo | See cases | Likely pathogenic | ClinVar | RCV000143265.7, VCV000155198.2 | 1 |