A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5628n54



Internal ID20139052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46171833..46704811hg38UCSC Ensembl
chr17:44249199..44782177hg19UCSC Ensembl
chr17:41604976..42137359hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38532979
hg19532979
hg18532384
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv575195, nsv575216, nsv575208, nsv575186
Samples
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A, LRRC37A2, NSF, NSFP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5628n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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