A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5545833



Internal ID319840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:226143825..226143828hg38UCSC Ensembl
chr2:227008541..227008544hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16928455
Samples
Known GenesLOC646736
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5545833
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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