A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18219520



Internal ID20786560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:114188704..114694717hg38UCSC Ensembl
chr9:116950984..117456997hg19UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg38506014
hg19506014
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6436533
Supporting Variants
Samples
Known GenesAKNA, ATP6V1G1, C9orf91, COL27A1, DFNB31, LOC100505478, MIR455, ORM1, ORM2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18219520
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00025


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