A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448005



Internal ID226291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:228201618..228231618hg38UCSC Ensembl
chr2:229066334..229096334hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3830001
hg1930001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16925730
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448005
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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