A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3246n100



Internal ID20154862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46267481..46480529hg38UCSC Ensembl
chr17:44344847..44557895hg19UCSC Ensembl
chr17:41700624..41913211hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38213049
hg19213049
hg18212588
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1062291, nsv1061267
Samples
Known GenesARL17A, ARL17B, 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)dgv3246n100
Frequency
Sample Size29084
Observed Gain4
Observed Loss18
Observed Complex0
Frequencyn/a


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