A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17699354



Internal ID123020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:77385450..77392436hg38UCSC Ensembl
chr14:77851793..77858779hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg386987
hg196987
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5497400
Supporting Variants
Samples
Known GenesSAMD15
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17699354
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002811


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