A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18216305



Internal ID20783345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:72813301..72819700hg38UCSC Ensembl
chr5:72109128..72115527hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg386400
hg196400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6409062
Supporting Variants
Samples
Known GenesTNPO1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18216305
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00013


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