A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5443289



Internal ID221689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:54516172..54525319hg38UCSC Ensembl
chr2:54743309..54752456hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg389148
hg199148
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16913427
Samples
Known GenesSPTBN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5443289
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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