A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597152



Internal ID16384561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:11384749..11385301hg38UCSC Ensembl
Innerchr5:11384861..11385413hg19UCSC Ensembl
Innerchr5:11437861..11438413hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38553
hg19553
hg18553
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1025294, nssv1025295
Samples
Known GenesCTNND2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597152
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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