A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5423052



Internal ID202079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:20046038..20046089hg38UCSC Ensembl
chr20:20026682..20026733hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17731445
Samples
Known GenesCRNKL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5423052
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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