A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5922n100



Internal ID20157538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:17490857..17921391hg38UCSC Ensembl
chr6:17491088..17921622hg19UCSC Ensembl
chr6:17599067..18029601hg18UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38430535
hg19430535
hg18430535
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1025488, nsv1030834, nsv1032741
Samples
Known GenesCAP2, FAM8A1, KIF13A, NUP153
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5922n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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