A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066891



Internal ID18809422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22611045..24001082hg38UCSC Ensembl
Innerchr22:22953515..24344410hg19UCSC Ensembl
Innerchr22:21283515..22674410hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg381390038
hg191390896
hg181390896
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3588910
Samples
Known GenesBCR, C22orf15, C22orf43, CES5AP1, CHCHD10, DDT, DDTL, DERL3, FBXW4P1, GGTLC2, GNAZ, GSTT2, GSTT2B, GSTTP1, GUSBP11, IGLL1, IGLL5, LOC284889, MIF, MIR650, MMP11, POM121L1P, RAB36, RGL4, RTDR1, SLC2A11, SMARCB1, VPREB3, ZDHHC8P1, ZNF70
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1066891
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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