A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5465334



Internal ID243197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:115294786..115294861hg38UCSC Ensembl
chr5:114630483..114630558hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16971698
Samples
Known GenesCCDC112
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5465334
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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