A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18089933



Internal ID20656973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:46100292..46108553hg38UCSC Ensembl
chr2:46327431..46335692hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg388262
hg198262
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6338408
Supporting Variants
Samples
Known GenesPRKCE
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18089933
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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