A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6543457



Internal ID20916705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:23314752..24650155hg38UCSC Ensembl
chr22:23656939..25046122hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg381335404
hg191389184
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4649n223
Supporting Variantsnssv18206731
Samples
Known GenesADORA2A, ADORA2A-AS1, BCR, 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
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6543457
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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