A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18211522



Internal ID20778562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:180036201..180037700hg38UCSC Ensembl
chr3:179753989..179755488hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg381500
hg191500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6369936
Supporting Variants
Samples
Known GenesPEX5L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18211522
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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