A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18253743



Internal ID20820783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:23595772..25434095hg38UCSC Ensembl
chr22:23937959..25830062hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg381838324
hg191892104
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6597071
Supporting Variants
Samples
Known GenesADORA2A, ADORA2A-AS1, BCRP3, C22orf15, C22orf43, CABIN1, CHCHD10, CRYBB2, CRYBB3, DDT, DDTL, DERL3, FAM211B, GGT1, GGT5, GSTT1, GSTT2, GSTT2B, GSTTP1, GSTTP2, GUCD1, GUSBP11, IGLL3P, KIAA1671, LOC100128531, LOC284889, LOC391322, LRP5L, MIF, MMP11, PIWIL3, POM121L10P, POM121L9P, RGL4, SGSM1, SLC2A11, SMARCB1, SNRPD3, SPECC1L, SPECC1L-ADORA2A, SUSD2, TMEM211, TOP1P2, UPB1, VPREB3, ZNF70
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18253743
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.01085


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