A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6597991



Internal ID20971062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:43335838..45080470hg38UCSC Ensembl
chr22:43731844..45476351hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg381744633
hg191744508
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4727n223
Supporting Variantsnssv18255049
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)nsv6597991
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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