A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17699341



Internal ID123007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:77117089..77117156hg38UCSC Ensembl
chr14:77583432..77583499hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5494385
Supporting Variants
Samples
Known GenesKIAA1737
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17699341
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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