A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv952621



Internal ID15899891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23323169..24547614hg38UCSC Ensembl
Innerchr22:23665356..24943582hg19UCSC Ensembl
Innerchr22:21995356..23273582hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg381224446
hg191278227
hg181278227
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv588602
Supporting Variants
Samples
Known GenesADORA2A, ADORA2A-AS1, C22orf15, C22orf43, CABIN1, CES5AP1, CHCHD10, DDT, DDTL, DERL3, GGT5, GSTT1, GSTT2, GSTT2B, GSTTP1, GSTTP2, GUCD1, GUSBP11, IGLL1, LOC284889, LOC391322, MIF, MMP11, POM121L9P, RGL4, SLC2A11, SMARCB1, 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)nssv952621
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer