A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17696739



Internal ID120405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:64548317..64554304hg38UCSC Ensembl
chr14:65015035..65021022hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg385988
hg195988
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5495785
Supporting Variants
Samples
Known GenesPPP1R36
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17696739
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001718


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