A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv464n100



Internal ID20152080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:169944456..169995965hg38UCSC Ensembl
chr1:169913597..169965106hg19UCSC Ensembl
chr1:168180221..168231730hg18UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3851510
hg1951510
hg1851510
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1009789, nsv1012534, nsv1001013, nsv1005982, nsv1008890
Samples
Known GenesKIFAP3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv464n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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