A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv834713



Internal ID15781983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:104880959..104950810hg38UCSC Ensembl
Innerchr14:105347296..105417147hg19UCSC Ensembl
Innerchr14:104418341..104488192hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3869852
hg1969852
hg1869852
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv566139
Supporting Variants
Samples
Known GenesAHNAK2, CEP170B, PLD4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv834713
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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