A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3213n100



Internal ID22789300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46130778..46218456hg38UCSC Ensembl
chr17:44208144..44295822hg19UCSC Ensembl
chr17:41563921..41651599hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3887679
hg1987679
hg1887679
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1064847, nsv1058510, nsv1060278, nsv1058217, nsv1061575, nsv1065970, nsv1057564, nsv1062601, nsv1064402, nsv1062876, nsv1060473, nsv1055651, nsv1063663, nsv1059322, nsv1057523, nsv1055432
Samples
Known GenesKANSL1, KANSL1-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3213n100
Frequency
Sample Size11257
Observed Gain32
Observed Loss76
Observed Complex0
Frequencyn/a


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