A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060908



Internal ID18803439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23322244..24643213hg38UCSC Ensembl
Innerchr22:23664431..25039180hg19UCSC Ensembl
Innerchr22:21994431..23369180hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg381320970
hg191374750
hg181374750
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4528n100
Supporting Variantsnssv3586511
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, 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)nsv1060908
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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