A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2255n100



Internal ID22788342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:20351177..20538504hg38UCSC Ensembl
chr15:20556430..20743782hg19UCSC Ensembl
chr15:18816444..19003796hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38187328
hg19187353
hg18187353
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1049254, nsv1054309, nsv1045053, nsv1047894
Samples
Known GenesGOLGA6L6, HERC2P3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv2255n100
Frequency
Sample Size11257
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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