A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4009712



Internal ID22071343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:105537192..105733039hg38UCSC Ensembl
Outerchr14:105533894..105752248hg38UCSC Ensembl
Innerchr14:106003529..106199376hg19UCSC Ensembl
Outerchr14:106000231..106218585hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38218355
hg19218355
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1155042
Supporting Variants
Samples
Known GenesELK2AP, MIR8071-1, MIR8071-2
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4009712
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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