nsv3924751
- 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:13,892,861
- Description:GRCh38/hg38 14q12-21.2(chr14:30792271-44685131)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: 41089 SVs from 130 studies. See in: genome view
Overlapping variant regions from other studies: 41090 SVs from 130 studies. See in: genome view
Overlapping variant regions from other studies: 10932 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 |
|---|---|---|---|---|---|---|---|
| nsv3924751 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 30,792,271 | 44,685,131 |
| nsv3924751 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 31,261,477 | 45,154,334 |
| nsv3924751 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 30,331,228 | 44,224,084 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146746 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000143063.4, VCV000154996.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146746 | Submitted genomic | NC_000014.9:g.(?_3 0792271)_(44685131 _?)del | GRCh38 (hg38) | NC_000014.9 | Chr14 | 30,792,271 | 44,685,131 |
| nssv15146746 | Submitted genomic | NC_000014.8:g.(?_3 1261477)_(45154334 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 31,261,477 | 45,154,334 |
| nssv15146746 | Submitted genomic | NC_000014.7:g.(?_3 0331228)_(44224084 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 30,331,228 | 44,224,084 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146746 | GRCh37: NC_000014.8:g.(?_31261477)_(45154334_?)del, GRCh38: NC_000014.9:g.(?_30792271)_(44685131_?)del, NCBI36: NC_000014.7:g.(?_30331228)_(44224084_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000143063.4, VCV000154996.2 | 1 |