A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18209283



Internal ID20776323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:46681801..46796100hg38UCSC Ensembl
chr3:46723291..46837590hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38114300
hg19114300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6371926
Supporting Variants
Samples
Known GenesALS2CL, PRSS45, PRSS46, PRSS50, TMIE
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18209283
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00021


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