A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3230n100



Internal ID22789317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46161856..46286792hg38UCSC Ensembl
chr17:44239222..44364158hg19UCSC Ensembl
chr17:41594999..41719935hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38124937
hg19124937
hg18124937
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1066310, nsv1062996, nsv1067153, nsv1059721, nsv1058980, nsv1066605
Samples
Known GenesKANSL1, KANSL1-AS1, LOC644172
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3230n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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