A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588603



Internal ID16029326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23325544..24601506hg38UCSC Ensembl
Innerchr22:23667731..24997473hg19UCSC Ensembl
Innerchr22:21997731..23327473hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg381275963
hg191329743
hg181329743
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8039n54
Supporting Variantsnssv952622
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
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588603
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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