A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6599429



Internal ID20972500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:23594626..25435207hg38UCSC Ensembl
chr22:23936813..25831174hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg381840582
hg191894362
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4651n223
Supporting Variantsnssv18253741
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)nsv6599429
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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