A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18215354



Internal ID20782394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:9362901..9455400hg38UCSC Ensembl
chr4:9364627..9457126hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3892500
hg1992500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6362426
Supporting Variants
Samples
Known GenesDEFB131, USP17L24, USP17L25, USP17L26, USP17L27, USP17L28, USP17L29, USP17L30, USP17L5, USP17L6P
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18215354
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.03677


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