A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064623



Internal ID18807154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23350076..24682765hg38UCSC Ensembl
Innerchr22:23692263..25078732hg19UCSC Ensembl
Innerchr22:22022263..23408732hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg381332690
hg191386470
hg181386470
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4528n100
Supporting Variantsnssv3586516
Samples
Known GenesADORA2A, ADORA2A-AS1, BCRP3, C22orf15, C22orf43, CABIN1, CES5AP1, CHCHD10, DDT, DDTL, DERL3, FAM211B, GGT1, GGT5, GSTT1, GSTT2, GSTT2B, GSTTP1, GSTTP2, GUCD1, GUSBP11, IGLL1, LOC284889, LOC391322, MIF, MMP11, POM121L10P, POM121L9P, RGL4, SLC2A11, SMARCB1, SNRPD3, SPECC1L, SPECC1L-ADORA2A, SUSD2, UPB1, 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)nsv1064623
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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