A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6364219



Internal ID21021772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:54808737..54815554hg38UCSC Ensembl
chr3:54842764..54849581hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg386818
hg196818
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18210022
Samples
Known GenesCACNA2D3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6364219
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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