A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5445314



Internal ID223667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:66243000..66250000hg38UCSC Ensembl
chr2:66470132..66477132hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg387001
hg197001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16913903
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5445314
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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