A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv566243



Internal ID16353652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:105474277..105477342hg38UCSC Ensembl
Innerchr14:105940614..105943679hg19UCSC Ensembl
Innerchr14:105011659..105014724hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg383066
hg193066
hg183066
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3994n54
Supporting Variantsnssv834896
Samples
Known GenesCRIP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv566243
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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