A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18216375



Internal ID20783415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:75881401..75883900hg38UCSC Ensembl
chr5:75177226..75179725hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg382500
hg192500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6409076
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18216375
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00043


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