A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4649n223



Internal ID22807617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:23314752..24675047hg38UCSC Ensembl
chr22:23656939..25071014hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg381360296
hg191414076
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6551470, nsv6543457
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)dgv4649n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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