A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5444059



Internal ID222441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:57120088..57302748hg38UCSC Ensembl
chr2:57347223..57529883hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38182661
hg19182661
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16913175
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5444059
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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