A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5454290



Internal ID232392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:3294261..3294317hg38UCSC Ensembl
chr6:3294495..3294551hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16978014
Samples
Known GenesSLC22A23
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5454290
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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