A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv526567



Internal ID8420842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23348138..24600663hg38UCSC Ensembl
Innerchr22:23690325..24996630hg19UCSC Ensembl
Innerchr22:22020325..23326630hg18UCSC Ensembl
Innerchr22:22014879..23321184hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg381252526
hg191306306
hg181306306
hg171306306
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv702883
Samples
Known GenesADORA2A, ADORA2A-AS1, C22orf15, C22orf43, CABIN1, CES5AP1, CHCHD10, DDT, DDTL, DERL3, FAM211B, GGT1, GGT5, GSTT1, GSTT2, GSTT2B, GSTTP1, GSTTP2, GUCD1, GUSBP11, IGLL1, LOC284889, LOC391322, MIF, MMP11, POM121L9P, RGL4, SLC2A11, SMARCB1, SNRPD3, SPECC1L, SPECC1L-ADORA2A, SUSD2, UPB1, VPREB3, ZDHHC8P1, ZNF70
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
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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