A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5439619



Internal ID218154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:26903000..26909000hg38UCSC Ensembl
chr2:27125868..27131868hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16910619
Samples
Known GenesDPYSL5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5439619
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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