A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5445680



Internal ID224026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:27430376..27430441hg38UCSC Ensembl
chr2:27653243..27653308hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16910322
Samples
Known GenesNRBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5445680
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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