A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6596913



Internal ID20969984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:22928460..27825377hg38UCSC Ensembl
chr22:23270636..28221365hg19UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg384896918
hg194950730
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18253733
Samples
Known GenesADORA2A, ADORA2A-AS1, ADRBK2, ASPHD2, BCR, BCRP3, C22orf15, C22orf43, CABIN1, CES5AP1, CHCHD10, CRYBA4, CRYBB1, CRYBB2, CRYBB2P1, CRYBB3, DDT, DDTL, DERL3, FAM211B, FBXW4P1, GGT1, GGT5, GNAZ, GSTT1, GSTT2, GSTT2B, GSTTP1, GSTTP2, GUCD1, GUSBP11, HPS4, IGLL1, IGLL3P, KIAA1671, LOC100128531, LOC284889, LOC391322, LRP5L, MIAT, MIF, MIR548J, MIR6817, MMP11, MN1, MYO18B, PIWIL3, POM121L10P, POM121L9P, RAB36, RGL4, RTDR1, SEZ6L, SGSM1, SLC2A11, SMARCB1, SNRPD3, SPECC1L, SPECC1L-ADORA2A, SRRD, SUSD2, TFIP11, TMEM211, TOP1P2, TPST2, UPB1, VPREB3, ZDHHC8P1, ZNF70
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6596913
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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