nsv3923965
- 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:6,833,753
- Description:GRCh38/hg38 14q23.1-23.3(chr14:59917051-66750803)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: 16979 SVs from 117 studies. See in: genome view
Overlapping variant regions from other studies: 16981 SVs from 117 studies. See in: genome view
Overlapping variant regions from other studies: 3981 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3923965 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 59,917,051 | 66,750,803 |
| nsv3923965 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 60,383,769 | 67,217,521 |
| nsv3923965 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 59,453,522 | 66,287,274 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132074 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000050892.6, VCV000057228.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132074 | Submitted genomic | NC_000014.9:g.(?_5 9917051)_(66750803 _?)del | GRCh38 (hg38) | NC_000014.9 | Chr14 | 59,917,051 | 66,750,803 |
| nssv15132074 | Submitted genomic | NC_000014.8:g.(?_6 0383769)_(67217521 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 60,383,769 | 67,217,521 |
| nssv15132074 | Submitted genomic | NC_000014.7:g.(?_5 9453522)_(66287274 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 59,453,522 | 66,287,274 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132074 | GRCh37: NC_000014.8:g.(?_60383769)_(67217521_?)del, GRCh38: NC_000014.9:g.(?_59917051)_(66750803_?)del, NCBI36: NC_000014.7:g.(?_59453522)_(66287274_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000050892.6, VCV000057228.1 | 1 |