A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17404481



Internal ID22462351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:22653852..24634860hg38UCSC Ensembl
chr22:22996322..25030827hg19UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg381981009
hg192034506
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5958899
Supporting Variants
Samples
Known GenesADORA2A, ADORA2A-AS1, BCR, BCRP3, C22orf15, C22orf43, CABIN1, CES5AP1, CHCHD10, DDT, DDTL, DERL3, FAM211B, FBXW4P1, GGT1, GGT5, GNAZ, GSTT1, GSTT2, GSTT2B, GSTTP1, GSTTP2, GUCD1, GUSBP11, IGLL1, IGLL5, LOC284889, LOC391322, MIF, MIR650, MMP11, 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)nssv17404481
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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