A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16978014



Internal ID52747
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 StatusS
Merged Variantsnsv5454290
Supporting Variants
Samples
Known GenesSLC22A23
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16978014
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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