A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18178093



Internal ID20745133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6084209..6097339hg38UCSC Ensembl
chr16:6134210..6147340hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3813131
hg1913131
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6505140
Supporting Variants
Samples
Known GenesRBFOX1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18178093
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00033


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