A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18212720



Internal ID20779760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:107484040..107502595hg38UCSC Ensembl
chr5:106819741..106838296hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg3818556
hg1918556
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6397942
Supporting Variants
Samples
Known GenesEFNA5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18212720
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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