A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062411



Internal ID18804942
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 StatusM
Merged Variants
Supporting Variantsnssv3586518
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)nsv1062411
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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