A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17693425



Internal ID117091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:24105713..24171713hg38UCSC Ensembl
chr14:24574922..24640922hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3866001
hg1966001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6143350
Supporting Variants
Samples
Known GenesDCAF11, EMC9, FITM1, IRF9, MIR7703, PSME1, PSME2, RNF31
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17693425
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001519


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