A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5623n54



Internal ID20139047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46143895..46487204hg38UCSC Ensembl
chr17:44221261..44564570hg19UCSC Ensembl
chr17:41577038..41919886hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38343310
hg19343310
hg18342849
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv575201, nsv575178, nsv575210, nsv575219, nsv575231, nsv575175
Samples
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A, NSFP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5623n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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