A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5641n54



Internal ID20139065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46322712..46511163hg38UCSC Ensembl
chr17:44400078..44588529hg19UCSC Ensembl
chr17:41755843..41943845hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38188452
hg19188452
hg18188003
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv575347, nsv575271, nsv575289, nsv575342, nsv575270, nsv575296, nsv575297, nsv575286, nsv575337, nsv575269
Samples
Known GenesARL17A, ARL17B, LRRC37A, NSFP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5641n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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