A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5451319



Internal ID229504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:50484415..50491225hg38UCSC Ensembl
chr3:50521846..50528656hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg386811
hg196811
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16933437
Samples
Known GenesCACNA2D2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5451319
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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