A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5540493



Internal ID315248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:58049095..58049145hg38UCSC Ensembl
chr3:58034822..58034872hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16932989
Samples
Known GenesFLNB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5540493
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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