nsv3918299
- 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:4,274,203
- Description:GRCh38/hg38 14q32.31-32.33(chr14:102605096-106879298)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: 31242 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 28908 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 12014 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 |
|---|---|---|---|---|---|---|---|
| nsv3918299 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 102,605,096 | 106,879,298 |
| nsv3918299 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 103,071,433 | 107,287,505 |
| nsv3918299 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 102,141,186 | 106,358,550 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161369 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000143154.5, VCV000155087.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161369 | Submitted genomic | NC_000014.9:g.(?_1 02605096)_(1068792 98_?)del | GRCh38 (hg38) | NC_000014.9 | Chr14 | 102,605,096 | 106,879,298 |
| nssv15161369 | Submitted genomic | NC_000014.8:g.(?_1 03071433)_(1072875 05_?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 103,071,433 | 107,287,505 |
| nssv15161369 | Submitted genomic | NC_000014.7:g.(?_1 02141186)_(1063585 50_?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 102,141,186 | 106,358,550 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161369 | GRCh37: NC_000014.8:g.(?_103071433)_(107287505_?)del, GRCh38: NC_000014.9:g.(?_102605096)_(106879298_?)del, NCBI36: NC_000014.7:g.(?_102141186)_(106358550_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000143154.5, VCV000155087.2 | 1 |