A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5650n54



Internal ID20139074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46347360..46529367hg38UCSC Ensembl
chr17:44424726..44606733hg19UCSC Ensembl
chr17:41780482..41962049hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38182008
hg19182008
hg18181568
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv575308, nsv575299, nsv575330, nsv575298
Samples
Known GenesARL17A, ARL17B, LRRC37A2, NSFP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5650n54
Frequency
Sample Size17421
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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