A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3242n100



Internal ID20154858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46191927..46383054hg38UCSC Ensembl
chr17:44269293..44460420hg19UCSC Ensembl
chr17:41625070..41815840hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38191128
hg19191128
hg18190771
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1064288, nsv1067461, nsv1067012
Samples
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A, NSFP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3242n100
Frequency
Sample Size29084
Observed Gain7
Observed Loss3
Observed Complex0
Frequencyn/a


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