A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5644n54



Internal ID20139068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46333231..46710944hg38UCSC Ensembl
chr17:44410597..44788310hg19UCSC Ensembl
chr17:41766359..42143493hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38377714
hg19377714
hg18377135
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv575332, nsv575275, nsv575338, nsv575339, nsv575301, nsv575319, nsv575344, nsv575320, nsv575284
Samples
Known GenesARL17A, ARL17B, LRRC37A, LRRC37A2, NSF, NSFP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5644n54
Frequency
Sample Size17421
Observed Gain17
Observed Loss0
Observed Complex0
Frequencyn/a


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