A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3234n100



Internal ID22789321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46170462..46286792hg38UCSC Ensembl
chr17:44247828..44364158hg19UCSC Ensembl
chr17:41603605..41719935hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38116331
hg19116331
hg18116331
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1067434, nsv1062882, nsv1058032, nsv1060402, nsv1063496, nsv1064429, nsv1065171, nsv1065586, nsv1066655, nsv1058974
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)dgv3234n100
Frequency
Sample Size11257
Observed Gain29
Observed Loss41
Observed Complex0
Frequencyn/a


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