A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18213262



Internal ID20780302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:146303410..146346144hg38UCSC Ensembl
chr5:145682973..145725707hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3842735
hg1942735
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6410987
Supporting Variants
Samples
Known GenesPOU4F3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18213262
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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