A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18214022



Internal ID20781062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:53961632..54601472hg38UCSC Ensembl
chr5:53257462..53897302hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38639841
hg19639841
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6401197
Supporting Variants
Samples
Known GenesARL15, HSPB3, SNX18
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18214022
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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