A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17693427



Internal ID117093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:24135713..24141713hg38UCSC Ensembl
chr14:24604922..24610922hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6143365
Supporting Variants
Samples
Known GenesEMC9, PSME1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17693427
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.004114


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