A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18178471



Internal ID20745511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:46896191..46954526hg38UCSC Ensembl
chr16:46930103..46988438hg19UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg3858336
hg1958336
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6504398
Supporting Variants
Samples
Known GenesGPT2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18178471
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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