A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5471161



Internal ID248905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:68733737..68733831hg38UCSC Ensembl
chr6:69443629..69443723hg19UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16984059
Samples
Known GenesBAI3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5471161
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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