A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3221n100



Internal ID22789308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46137522..46205998hg38UCSC Ensembl
chr17:44214888..44283364hg19UCSC Ensembl
chr17:41570665..41639141hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3868477
hg1968477
hg1868477
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1060791, nsv1059643, nsv1063707, nsv1062619, nsv1061108, nsv1060662
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)dgv3221n100
Frequency
Sample Size11257
Observed Gain12
Observed Loss25
Observed Complex0
Frequencyn/a


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