A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2231n100



Internal ID22788318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:20283071..20689298hg38UCSC Ensembl
chr15:20488324..20894627hg19UCSC Ensembl
chr15:18748338..19178339hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38406228
hg19406304
hg18430002
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1043958, nsv1054038, nsv1053016, nsv1042772, nsv1049123, nsv1038707, nsv1049374, nsv1048375, nsv1051651, nsv1053791
Samples
Known GenesCHEK2P2, GOLGA6L6, GOLGA8CP, HERC2P3, NBEAP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv2231n100
Frequency
Sample Size11257
Observed Gain14
Observed Loss18
Observed Complex0
Frequencyn/a


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