A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv526567



Internal ID6018461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23690325..24996630hg19UCSC Ensembl
Innerchr22:22020325..23326630hg18UCSC Ensembl
Innerchr22:22014879..23321184hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv702883
Samples
Known GenesADORA2A, C22orf13, C22orf15, C22orf36, C22orf43, C22orf45, CABIN1, CES5AP1, CHCHD10, DDT, DDTL, DERL3, GGT1, GGT5, GSTT1, GSTT2, GSTT2B, GSTTP1, GSTTP2, GUSBP11, IGLL1, LOC284889, LOC391322, MIF, MMP11, POM121L9P, RGL4, SLC2A11, SMARCB1, SNRPD3, SPECC1L, SUSD2, UPB1, VPREB3, ZDHHC8P1, ZNF70
Method
AnalysisCNV regions located outside of or spanning over several merged-level regions determined by the submitter
PlatformIllumina HumanHap550 Genotyping BeadChip v3
Comments
ReferenceShaikh et al 2009
Pubmed ID19592680
Accession Number(s)nsv526567
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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