A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18214247



Internal ID20781287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:82810487..82810879hg38UCSC Ensembl
chr5:82106306..82106698hg19UCSC Ensembl
Cytoband5q14.2
Allele length
AssemblyAllele length
hg38393
hg19393
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6404922
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18214247
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00047


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