nsv3921865
- 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:2,429,585
- Description:GRCh38/hg38 14q13.1-13.3(chr14:33762166-36191750)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: 8598 SVs from 109 studies. See in: genome view
Overlapping variant regions from other studies: 8598 SVs from 109 studies. See in: genome view
Overlapping variant regions from other studies: 2214 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3921865 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 33,762,166 | 36,191,750 |
| nsv3921865 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 34,231,372 | 36,660,956 |
| nsv3921865 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 33,301,123 | 35,730,707 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146027 | copy number loss | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000142534.5, VCV000154467.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146027 | Submitted genomic | NC_000014.9:g.(?_3 3762166)_(36191750 _?)del | GRCh38 (hg38) | NC_000014.9 | Chr14 | 33,762,166 | 36,191,750 |
| nssv15146027 | Submitted genomic | NC_000014.8:g.(?_3 4231372)_(36660956 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 34,231,372 | 36,660,956 |
| nssv15146027 | Submitted genomic | NC_000014.7:g.(?_3 3301123)_(35730707 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 33,301,123 | 35,730,707 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146027 | GRCh37: NC_000014.8:g.(?_34231372)_(36660956_?)del, GRCh38: NC_000014.9:g.(?_33762166)_(36191750_?)del, NCBI36: NC_000014.7:g.(?_33301123)_(35730707_?)del | copy number loss | not provided | See cases | Uncertain significance | ClinVar | RCV000142534.5, VCV000154467.2 | 1 |