A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582338



Internal ID16369747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:79833157..80058810hg38UCSC Ensembl
Innerchr2:80060283..80285936hg19UCSC Ensembl
Innerchr2:79913791..80139447hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38225654
hg19225654
hg18225657
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv913798
Samples
Known GenesCTNNA2, MIR8080
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582338
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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