nsv4683415
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:682,881
- Description:NC_000013.11:g.(?_20141961)_(20824841_?)del AND Cataract 14 multiple types
- ClinVar: RCV001031192.3
- ClinVar: VCV000830569.3
- MONDO: 0011162
- MedGen: C1866078
- OMIM: 121015.0001
- OMIM: 121015.0002
- OMIM: 121015.0003
- OMIM: 121015.0004
- OMIM: 121015.0005
- OMIM: 121015.0006
- OMIM: 121015.0007
- OMIM: 121015.0008
- OMIM: 121015.0009
- OMIM: 601885
- Orphanet: 91492
- Overlapping Genes
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 2376 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 2376 SVs from 85 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4683415 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 20,141,961 | 20,824,841 |
| nsv4683415 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 20,716,100 | 21,398,980 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16213121 | deletion | Multiple | Multiple | CATARACT 14, MULTIPLE TYPES; CTRCT14; Early-onset non-syndromic cataract; See individual phenotypes in OMIM allelic variants; Zonular pulverulent cataract 3 | Uncertain significance | ClinVar | RCV001031192.3, VCV000830569.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16213121 | Remapped | Perfect | NC_000013.11:g.(?_ 20141961)_(2082484 1_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 20,141,961 | 20,824,841 |
| nssv16213121 | Submitted genomic | NC_000013.10:g.(?_ 20716100)_(2139898 0_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 20,716,100 | 21,398,980 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16213121 | GRCh37: NC_000013.10:g.(?_20716100)_(21398980_?)del | deletion | germline | CATARACT 14, MULTIPLE TYPES; CTRCT14; Early-onset non-syndromic cataract; See individual phenotypes in OMIM allelic variants; Zonular pulverulent cataract 3 | Uncertain significance | ClinVar | RCV001031192.3, VCV000830569.3 |