A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2544n100



Internal ID20154160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:32166460..32623392hg38UCSC Ensembl
chr15:32458661..32915593hg19UCSC Ensembl
chr15:30245953..30702885hg18UCSC Ensembl
Cytoband15q13.3
Allele length
AssemblyAllele length
hg38456933
hg19456933
hg18456933
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1038003, nsv1047407, nsv1053723, nsv1048549, nsv1048065
Samples
Known GenesARHGAP11A, CHRNA7, GOLGA8K, GOLGA8O, GOLGA8R, LOC100996255, ULK4P1, ULK4P2, ULK4P3, WHAMMP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv2544n100
Frequency
Sample Size29084
Observed Gain8
Observed Loss56
Observed Complex0
Frequencyn/a


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