nsv3924893
- 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:573,178
- Description:GRCh38/hg38 14q12(chr14:26905754-27478931)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: 2026 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 2026 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 515 SVs from 19 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3924893 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 26,905,754 | 27,478,931 |
| nsv3924893 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 27,374,960 | 27,948,137 |
| nsv3924893 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 26,444,800 | 27,017,977 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15134730 | copy number loss | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000138212.4, VCV000149156.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15134730 | Submitted genomic | NC_000014.9:g.(?_2 6905754)_(27478931 _?)del | GRCh38 (hg38) | NC_000014.9 | Chr14 | 26,905,754 | 27,478,931 |
| nssv15134730 | Submitted genomic | NC_000014.8:g.(?_2 7374960)_(27948137 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 27,374,960 | 27,948,137 |
| nssv15134730 | Submitted genomic | NC_000014.7:g.(?_2 6444800)_(27017977 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 26,444,800 | 27,017,977 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15134730 | GRCh37: NC_000014.8:g.(?_27374960)_(27948137_?)del, GRCh38: NC_000014.9:g.(?_26905754)_(27478931_?)del, NCBI36: NC_000014.7:g.(?_26444800)_(27017977_?)del | copy number loss | not provided | See cases | Uncertain significance | ClinVar | RCV000138212.4, VCV000149156.2 | 1 |