A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5465665



Internal ID243524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:131712248..131712328hg38UCSC Ensembl
chr5:131047941..131048021hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16974982
Samples
Known GenesFNIP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5465665
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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