A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18215422



Internal ID20782462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:129442093..130022265hg38UCSC Ensembl
chr5:128777786..129357958hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg38580173
hg19580173
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6407485
Supporting Variants
Samples
Known GenesADAMTS19, CHSY3, KIAA1024L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18215422
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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