nsv3889197
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:57,232
- Description:
See descriptions for individual calls in download files - Publication(s):Anikster et al. 2000, Bendavid et al. 2004, Buntinx et al. 2016, Gahl et al. 2002, Macías-Vidal et al. 2009, Nesterova et al. 2001, Shotelersuk et al. 1998, Touchman et al. 2000, Town et al. 1998, Wamelink et al. 2008
- ClinVar: RCV000004696.5
- ClinVar: RCV000004697.3
- ClinVar: RCV000004698.3
- ClinVar: VCV000004445.3
- GeneReviews: NBK1400
- MONDO: 0009064
- MONDO: 0009066
- MONDO: 0100151
- MedGen: C0268626
- MedGen: C2931013
- MedGen: C2931187
- OMIM: 219750
- OMIM: 219800
- OMIM: 219900
- OMIM: 606272.0004
- OMIM: 606272.0005
- OMIM: 606272.0008
- OMIM: 606272.0016
- OMIM: 606272.0018
- Orphanet: 213
- Orphanet: 411629
- Orphanet: 411634
- PubMed: 10625078
- PubMed: 10673275
- PubMed: 12110740
- PubMed: 15365816
- PubMed: 18186520
- PubMed: 19863563
- PubMed: 20301574
- PubMed: 27734949
- PubMed: 9537412
- PubMed: 9792862
- dbVar: nssv3761567
- dbVar: nsv1067862
- 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 | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv3889197 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 3,600,934 | 3,658,165 |
| nsv3889197 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 3,504,228 | 3,561,459 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15119662 | deletion | Multiple | Multiple | CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE; Cystinosis; Cystinosis; Juvenile nephropathic cystinosis; Juvenile nephropathic cystinosis; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV000004697.3, VCV000004445.3 |
| nssv15120126 | deletion | Multiple | Multiple | CYSTINOSIS, ADULT NONNEPHROPATHIC; Cystinosis; Cystinosis; Cystinosis, ocular nonnephropathic | Pathogenic | ClinVar | RCV000004698.3, VCV000004445.3 |
| nssv15146057 | deletion | Multiple | Multiple | CYSTINOSIS, NEPHROPATHIC; CTNS; Cystinosis; Cystinosis; Nephropathic cystinosis; Nephropathic infantile cystinosis | Pathogenic | ClinVar | RCV000004696.5, VCV000004445.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15119662 | Submitted genomic | NC_000017.11:g.360 0934_3658165del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 3,600,934 | 3,658,165 |
| nssv15120126 | Submitted genomic | NC_000017.11:g.360 0934_3658165del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 3,600,934 | 3,658,165 |
| nssv15146057 | Submitted genomic | NC_000017.11:g.360 0934_3658165del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 3,600,934 | 3,658,165 |
| nssv15119662 | Submitted genomic | NC_000017.10:g.350 4228_3561459del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 3,504,228 | 3,561,459 |
| nssv15120126 | Submitted genomic | NC_000017.10:g.350 4228_3561459del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 3,504,228 | 3,561,459 |
| nssv15146057 | Submitted genomic | NC_000017.10:g.350 4228_3561459del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 3,504,228 | 3,561,459 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15119662 | GRCh37: NC_000017.10:g.3504228_3561459del, GRCh38: NC_000017.11:g.3600934_3658165del | deletion | germline | CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE; Cystinosis; Cystinosis; Juvenile nephropathic cystinosis; Juvenile nephropathic cystinosis; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV000004697.3, VCV000004445.3 |
| nssv15120126 | GRCh37: NC_000017.10:g.3504228_3561459del, GRCh38: NC_000017.11:g.3600934_3658165del | deletion | germline | CYSTINOSIS, ADULT NONNEPHROPATHIC; Cystinosis; Cystinosis; Cystinosis, ocular nonnephropathic | Pathogenic | ClinVar | RCV000004698.3, VCV000004445.3 |
| nssv15146057 | GRCh37: NC_000017.10:g.3504228_3561459del, GRCh38: NC_000017.11:g.3600934_3658165del | deletion | see ClinVar for details | CYSTINOSIS, NEPHROPATHIC; CTNS; Cystinosis; Cystinosis; Nephropathic cystinosis; Nephropathic infantile cystinosis | Pathogenic | ClinVar | RCV000004696.5, VCV000004445.3 |