nsv3912235
- 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:7,345,462
- Description:GRCh38/hg38 4q12-13.1(chr4:52639018-59984479)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: 20529 SVs from 120 studies. See in: genome view
Overlapping variant regions from other studies: 20405 SVs from 120 studies. See in: genome view
Overlapping variant regions from other studies: 5200 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 |
|---|---|---|---|---|---|---|---|
| nsv3912235 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 52,639,018 | 59,984,479 |
| nsv3912235 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 53,505,185 | 60,850,197 |
| nsv3912235 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 53,199,942 | 60,532,792 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15121219 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053265.5, VCV000059423.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15121219 | Submitted genomic | NC_000004.12:g.(?_ 52639018)_(5998447 9_?)del | GRCh38 (hg38) | NC_000004.12 | Chr4 | 52,639,018 | 59,984,479 |
| nssv15121219 | Submitted genomic | NC_000004.11:g.(?_ 53505185)_(6085019 7_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 53,505,185 | 60,850,197 |
| nssv15121219 | Submitted genomic | NC_000004.10:g.(?_ 53199942)_(6053279 2_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 53,199,942 | 60,532,792 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15121219 | GRCh37: NC_000004.11:g.(?_53505185)_(60850197_?)del, GRCh38: NC_000004.12:g.(?_52639018)_(59984479_?)del, NCBI36: NC_000004.10:g.(?_53199942)_(60532792_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000053265.5, VCV000059423.1 | 1 |