nsv6310218
- 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:57,119
- Description:NC_000017.10:g.(?_3504346)_(3561464_?)del AND multiple conditions
- Publication(s):Blout et al. 2013, Botkin et al. 2014, Cornel et al. 2013, Edwards et al. 2015, Fears et al. 2012, Grody et al. 2013, Howard et al. 2015, Langer et al. 2012, Nesterova et al. 2001, No authors et al. 2019, Skirton et al. 2013, Teckman et al. 2014, Therrell et al. 2012
- ClinVar: RCV003104159.7
- ClinVar: VCV001458479.37
- GeneReviews: NBK1400
- MONDO: 0009064
- MONDO: 0009066
- MeSH: D030342
- MedGen: C0268626
- MedGen: C0950123
- MedGen: C2931013
- OMIM: 219750
- OMIM: 219900
- OMIM: 606272.0004
- OMIM: 606272.0005
- OMIM: 606272.0008
- OMIM: 606272.0016
- OMIM: 606272.0018
- Orphanet: 213
- Orphanet: 411634
- PubMed: 20301574
- PubMed: 22947299
- PubMed: 23037933
- PubMed: 23169492
- PubMed: 23619275
- PubMed: 23652378
- PubMed: 23881473
- PubMed: 24022298
- PubMed: 24121147
- PubMed: 24394680
- PubMed: 25626707
- PubMed: 25730230
- PubMed: 31022120
- 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: 435 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 435 SVs from 62 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6310218 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 3,601,052 | 3,658,170 |
| nsv6310218 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 3,504,346 | 3,561,464 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18792323 | deletion | Multiple | Multiple | CYSTINOSIS, ADULT NONNEPHROPATHIC; CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE; Cystinosis; Cystinosis; Cystinosis, ocular nonnephropathic; Genetic Diseases, Inborn; Inborn genetic diseases; Juvenile nephropathic cystinosis; Juvenile nephropathic cystinosis; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV003104159.7, VCV001458479.37 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18792323 | Remapped | Perfect | NC_000017.11:g.(?_ 3601052)_(3658170_ ?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 3,601,052 | 3,658,170 |
| nssv18792323 | Submitted genomic | NC_000017.10:g.(?_ 3504346)_(3561464_ ?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 3,504,346 | 3,561,464 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18792323 | GRCh37: NC_000017.10:g.(?_3504346)_(3561464_?)del | deletion | germline | CYSTINOSIS, ADULT NONNEPHROPATHIC; CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE; Cystinosis; Cystinosis; Cystinosis, ocular nonnephropathic; Genetic Diseases, Inborn; Inborn genetic diseases; Juvenile nephropathic cystinosis; Juvenile nephropathic cystinosis; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV003104159.7, VCV001458479.37 |