A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3586518



Internal ID18538113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23407914..23922609hg38UCSC Ensembl
Innerchr22:23750101..24264796hg19UCSC Ensembl
Innerchr22:22080101..22594796hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38514696
hg19514696
hg18514696
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1062411
Supporting Variants
Samples
Known GenesC22orf15, C22orf43, CHCHD10, DERL3, GUSBP11, IGLL1, LOC284889, MIF, MMP11, RGL4, SLC2A11, SMARCB1, VPREB3, ZNF70
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3586518
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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