A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5956621



Internal ID22731797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:22621614..24637144hg38UCSC Ensembl
chr22:22964084..25033111hg19UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg382015531
hg192069028
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1387n209
Supporting Variantsnssv17405775
Samples
Known GenesADORA2A, ADORA2A-AS1, BCR, BCRP3, C22orf15, C22orf43, CABIN1, CES5AP1, CHCHD10, DDT, DDTL, DERL3, FAM211B, FBXW4P1, GGT1, GGT5, GGTLC2, GNAZ, GSTT1, GSTT2, GSTT2B, GSTTP1, GSTTP2, GUCD1, GUSBP11, IGLL1, IGLL5, LOC284889, LOC391322, MIF, MIR650, MMP11, POM121L1P, POM121L9P, RAB36, RGL4, RTDR1, SLC2A11, SMARCB1, SNRPD3, SPECC1L, SPECC1L-ADORA2A, SUSD2, UPB1, VPREB3, ZDHHC8P1, ZNF70
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5956621
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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