A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057566



Internal ID18800097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46495670..46609786hg38UCSC Ensembl
Innerchr21:47915583..48029698hg19UCSC Ensembl
Innerchr21:46740011..46854126hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38114117
hg19114116
hg18114116
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3600307
Samples
Known GenesDIP2A, S100B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057566
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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