A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv931573



Internal ID15878843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:218833281..218998934hg38UCSC Ensembl
Innerchr2:219698004..219863656hg19UCSC Ensembl
Innerchr2:219406248..219571900hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38165654
hg19165653
hg18165653
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv584490
Supporting Variants
Samples
Known GenesCDK5R2, CRYBA2, FEV, LINC00608, WNT10A, WNT6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv931573
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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