A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5999031



Internal ID21908374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:14347009..14347417hg38UCSC Ensembl
chr5:14347118..14347526hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38409
hg19409
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17548555
Samples
Known GenesTRIO
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5999031
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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