A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5630n54



Internal ID20139054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46176257..46248879hg38UCSC Ensembl
chr17:44253623..44326245hg19UCSC Ensembl
chr17:41609400..41682022hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3872623
hg1972623
hg1872623
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv575232, nsv575252, nsv575257, nsv575200
Samples
Known GenesKANSL1, KANSL1-AS1, LOC644172
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5630n54
Frequency
Sample Size17421
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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