A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5452513



Internal ID230665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:85310529..85405632hg38UCSC Ensembl
chr3:85359679..85454782hg19UCSC Ensembl
Cytoband3p12.1
Allele length
AssemblyAllele length
hg3895104
hg1995104
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv350n206
Supporting Variantsnssv16936311
Samples
Known GenesCADM2, MIR5688
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5452513
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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