A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5469162



Internal ID246952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:25692629..25713307hg38UCSC Ensembl
chr6:25692857..25713535hg19UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg3820679
hg1920679
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16982334
Samples
Known GenesSCGN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5469162
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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