A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5473106



Internal ID250801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:96554431..96554624hg38UCSC Ensembl
chr6:97002307..97002500hg19UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg38194
hg19194
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16988502
Samples
Known GenesUFL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5473106
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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