A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5657n54



Internal ID20139081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46529794..46722680hg38UCSC Ensembl
chr17:44607160..44800046hg19UCSC Ensembl
chr17:41962476..42155230hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38192887
hg19192887
hg18192755
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv575386, nsv575381, nsv575382, nsv575383, nsv575378, nsv575385, nsv575379, nsv575380, nsv575384, nsv575376, nsv575375, nsv575377
Samples
Known GenesARL17A, ARL17B, LRRC37A2, NSF, NSFP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5657n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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