A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5469395



Internal ID247182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:110790898..110797106hg38UCSC Ensembl
chr6:111112101..111118309hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg386209
hg196209
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16988002
Samples
Known GenesCDK19
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5469395
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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