A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6551470



Internal ID20924604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:23344699..24675047hg38UCSC Ensembl
chr22:23686886..25071014hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg381330349
hg191384129
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4649n223
Supporting Variantsnssv18206732
Samples
Known GenesADORA2A, ADORA2A-AS1, BCRP3, C22orf15, C22orf43, CABIN1, CES5AP1, CHCHD10, DDT, DDTL, DERL3, FAM211B, GGT1, GGT5, GSTT1, GSTT2, GSTT2B, GSTTP1, GSTTP2, GUCD1, GUSBP11, IGLL1, LOC284889, LOC391322, MIF, MMP11, POM121L10P, POM121L9P, RGL4, SLC2A11, SMARCB1, SNRPD3, SPECC1L, SPECC1L-ADORA2A, SUSD2, UPB1, VPREB3, ZDHHC8P1, ZNF70
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6551470
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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