A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5468116



Internal ID245920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:79079295..79094270hg38UCSC Ensembl
chr5:78375118..78390093hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3814976
hg1914976
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16966952
Samples
Known GenesBHMT2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5468116
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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