nsv5380743
- 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:172,006
- Description:NC_000012.11:g.(?_94634261)_(94806266_?)dup AND Nephronophthisis 18
- Publication(s):Stokman et al. 2016
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 357 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 357 SVs from 56 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5380743 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 94,240,485 | 94,412,490 |
| nsv5380743 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 94,634,261 | 94,806,266 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16867234 | duplication | Multiple | Multiple | NEPHRONOPHTHISIS 18; NPHP18; Nephronophthisis; Nephronophthisis; Nephronophthisis 18 | Uncertain significance | ClinVar | RCV001344720.4, VCV001040981.4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16867234 | Remapped | Perfect | NC_000012.12:g.(?_ 94240485)_(9441249 0_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 94,240,485 | 94,412,490 |
| nssv16867234 | Submitted genomic | NC_000012.11:g.(?_ 94634261)_(9480626 6_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 94,634,261 | 94,806,266 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16867234 | GRCh37: NC_000012.11:g.(?_94634261)_(94806266_?)dup | duplication | germline | NEPHRONOPHTHISIS 18; NPHP18; Nephronophthisis; Nephronophthisis; Nephronophthisis 18 | Uncertain significance | ClinVar | RCV001344720.4, VCV001040981.4 |