nsv5564262
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:complex substitution
- Method Type:Multiple
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:78,439
- Description:Single allele AND Basan syndrome
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 283 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 283 SVs from 46 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5564262 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 94,175,790 | 94,254,228 | ||
nsv5564262 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 95,096,941 | 95,175,379 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv17059340 | complex substitution | Multiple | Multiple | Absence of fingerprints-congenital milia syndrome; BASAN SYNDROME; Basan syndrome | Pathogenic | ClinVar | RCV001358803.2, VCV001050853.4 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|
nssv17059340 | Submitted genomic | GRCh38 (hg38) | NC_000004.12 | Chr4 | 94,175,790 | 94,254,228 | ||
nssv17059340 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 95,096,941 | 95,175,379 |
No validation data were submitted for this variant
Clinical Assertions
Variant Call ID | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|
nssv17059340 | complex substitution | inherited | Absence of fingerprints-congenital milia syndrome; BASAN SYNDROME; Basan syndrome | Pathogenic | ClinVar | RCV001358803.2, VCV001050853.4 |