A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600345



Internal ID16041068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:176532918..176597879hg38UCSC Ensembl
Innerchr5:175959919..176024880hg19UCSC Ensembl
Innerchr5:175892525..175957486hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3864962
hg1964962
hg1864962
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1045689
Samples
Known GenesCDHR2, GPRIN1, RNF44
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600345
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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