A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2222n100



Internal ID22788309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:20235273..20952464hg38UCSC Ensembl
chr15:20440526..21157793hg19UCSC Ensembl
chr15:18700540..19422452hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38717192
hg19717268
hg18721913
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1039431, nsv1037080
Samples
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, NBEAP1, NF1P2, POTEB, POTEB2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv2222n100
Frequency
Sample Size11257
Observed Gain4
Observed Loss2
Observed Complex0
Frequencyn/a


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