A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5659n54



Internal ID20139083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46565999..46712837hg38UCSC Ensembl
chr17:44643365..44790203hg19UCSC Ensembl
chr17:41998681..42145386hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38146839
hg19146839
hg18146706
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv575395, nsv575391, nsv575411, nsv575403, nsv575397, nsv575394, nsv575392, nsv575405
Samples
Known GenesARL17A, ARL17B, NSF, NSFP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5659n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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