A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18217693



Internal ID20784733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:41049601..41226000hg38UCSC Ensembl
chr9:70835468..70986000hg19UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg38176400
hg19150533
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6449063
Supporting Variants
Samples
Known GenesCBWD3, CBWD5, FOXD4L3, PGM5, PGM5-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18217693
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0022


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