A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2201n100



Internal ID22788288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:20056971..20773569hg38UCSC Ensembl
chr15:20262224..20978898hg19UCSC Ensembl
chr15:18522238..19238943hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38716599
hg19716675
hg18716706
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1040411, nsv1049347, nsv1048089, nsv1036005, nsv1037539, nsv1042183, nsv1040273, nsv1037479, nsv1043574, nsv1040073, nsv1050848, nsv1035973, nsv1052320, nsv1039345, nsv1039839, nsv1044097, nsv1039287, nsv1036665, nsv1040259, nsv1039807, nsv1039736
Samples
Known GenesCHEK2P2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, NBEAP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv2201n100
Frequency
Sample Size11257
Observed Gain30
Observed Loss0
Observed Complex0
Frequencyn/a


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