A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3214n100



Internal ID20154830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46130778..46358076hg38UCSC Ensembl
chr17:44208144..44435442hg19UCSC Ensembl
chr17:41563921..41791184hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38227299
hg19227299
hg18227264
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1061955, nsv1066634, nsv1062575, nsv1061236
Samples
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3214n100
Frequency
Sample Size29084
Observed Gain6
Observed Loss6
Observed Complex0
Frequencyn/a


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