nsv7094663
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1,400,964
- Description:
See descriptions for individual calls in download files
- ClinVar: RCV003116765.2
- ClinVar: RCV003116766.2
- ClinVar: VCV002425969.2
- MONDO: 0009964
- MedGen: C1849437
- MedGen: CN517202
- OMIM: 266920
- OMIM: 614620.0001
- OMIM: 614620.0002
- OMIM: 614620.0003
- OMIM: 614620.0004
- OMIM: 614620.0005
- OMIM: 614620.0006
- OMIM: 614620.0007
- OMIM: 614620.0008
- OMIM: 614620.0016
- Orphanet: 140969
- 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: 10173 SVs from 113 studies. See in: genome view
Overlapping variant regions from other studies: 10173 SVs from 113 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7094663 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 206,303 | 1,607,266 |
| nsv7094663 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 256,302 | 1,657,267 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18790909 | deletion | Multiple | Multiple | Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia; SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9; Saldino-Mainzer syndrome; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV003116765.2, VCV002425969.2 |
| nssv18790910 | deletion | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV003116766.2, VCV002425969.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18790909 | Remapped | Perfect | NC_000016.10:g.(?_ 206303)_(1607266_? )del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 206,303 | 1,607,266 |
| nssv18790910 | Remapped | Perfect | NC_000016.10:g.(?_ 206303)_(1607266_? )del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 206,303 | 1,607,266 |
| nssv18790909 | Submitted genomic | NC_000016.9:g.(?_2 56302)_(1657267_?) del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 256,302 | 1,657,267 | ||
| nssv18790910 | Submitted genomic | NC_000016.9:g.(?_2 56302)_(1657267_?) del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 256,302 | 1,657,267 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18790909 | GRCh37: NC_000016.9:g.(?_256302)_(1657267_?)del | deletion | germline | Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia; SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9; Saldino-Mainzer syndrome; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV003116765.2, VCV002425969.2 |
| nssv18790910 | GRCh37: NC_000016.9:g.(?_256302)_(1657267_?)del | deletion | germline | not provided | Pathogenic | ClinVar | RCV003116766.2, VCV002425969.2 |