nsv3923727
- 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:12,413,286
- Description:GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)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: 33196 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 33189 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 8105 SVs from 34 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3923727 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 69,562,099 | 81,975,384 |
| nsv3923727 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 70,028,816 | 82,441,728 |
| nsv3923727 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 69,098,569 | 81,511,481 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161064 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000134154.7, VCV000144734.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161064 | Submitted genomic | NC_000014.9:g.(?_6 9562099)_(81975384 _?)del | GRCh38 (hg38) | NC_000014.9 | Chr14 | 69,562,099 | 81,975,384 |
| nssv15161064 | Submitted genomic | NC_000014.8:g.(?_7 0028816)_(82441728 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 70,028,816 | 82,441,728 |
| nssv15161064 | Submitted genomic | NC_000014.7:g.(?_6 9098569)_(81511481 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 69,098,569 | 81,511,481 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161064 | GRCh37: NC_000014.8:g.(?_70028816)_(82441728_?)del, GRCh38: NC_000014.9:g.(?_69562099)_(81975384_?)del, NCBI36: NC_000014.7:g.(?_69098569)_(81511481_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000134154.7, VCV000144734.2 | 1 |