A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5551368



Internal ID324832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:26851335..26851335hg38UCSC Ensembl
chr2:27074203..27074203hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38198
hg19198
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16910615
Samples
Known GenesDPYSL5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5551368
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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