A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5642n54



Internal ID20139066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46333231..46448399hg38UCSC Ensembl
chr17:44410597..44525765hg19UCSC Ensembl
chr17:41766359..41881075hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38115169
hg19115169
hg18114717
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv575333, nsv575277, nsv575334, nsv575311, nsv575293, nsv575279, nsv575313, nsv575341, nsv575276, nsv575278, nsv575312, nsv575280, nsv575340, nsv575273
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)dgv5642n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


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