A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6597071



Internal ID20970142
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 StatusM
Merged Variantsdgv4651n223
Supporting Variantsnssv18253743
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)nsv6597071
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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