A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18255050



Internal ID20822090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:43336006..45080499hg38UCSC Ensembl
chr22:43732012..45476380hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg381744494
hg191744369
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6596723
Supporting Variants
Samples
Known GenesARHGAP8, EFCAB6, EFCAB6-AS1, KIAA1644, LDOC1L, LINC00207, LINC00229, MPPED1, PARVB, PARVG, PHF21B, PNPLA3, PNPLA5, PRR5, PRR5-ARHGAP8, SAMM50, SCUBE1, SULT4A1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18255050
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0


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