A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18185240



Internal ID20752280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:21501401..21600400hg38UCSC Ensembl
chr16:21512722..21611721hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg3899000
hg1999000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6501992
Supporting Variants
Samples
Known GenesLOC100271836, METTL9, SLC7A5P2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18185240
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.86783


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