A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16290134



Internal ID20499352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:59433196..59433196hg38UCSC Ensembl
chr5:58729022..58729022hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg385948
hg195948
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4766369
Supporting Variants
Samples
Known GenesPDE4D
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16290134
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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