A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5646n54



Internal ID20139070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46334049..46489976hg38UCSC Ensembl
chr17:44411415..44567342hg19UCSC Ensembl
chr17:41767177..41922658hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38155928
hg19155928
hg18155482
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv575306, nsv575288, nsv575327, nsv575324, nsv575282, nsv575328, nsv575316, nsv575336, nsv575346, nsv575295, nsv575354, nsv575307
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)dgv5646n54
Frequency
Sample Size17421
Observed Gain34
Observed Loss40
Observed Complex0
Frequencyn/a


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