A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5451675



Internal ID229850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:131796121..131803947hg38UCSC Ensembl
chr3:131514965..131522791hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg387827
hg197827
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16939879
Samples
Known GenesCPNE4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5451675
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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