A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5617n54



Internal ID22773512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46032108..46215654hg38UCSC Ensembl
chr17:44109474..44293020hg19UCSC Ensembl
chr17:41465321..41648797hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38183547
hg19183547
hg18183477
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv575147, nsv575148, nsv575145, nsv575143
Samples1780862592_A, NINDS_205, 1780862594_A
Known GenesKANSL1, KANSL1-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5617n54
Frequency
Sample Size17421
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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