A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5461569



Internal ID239518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:79502711..79617432hg38UCSC Ensembl
chr5:78798534..78913255hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38114722
hg19114722
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16967004
Samples
Known GenesHOMER1, PAPD4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5461569
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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