A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18179548



Internal ID20746588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:103822609..103824588hg38UCSC Ensembl
chr14:104288946..104290925hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg381980
hg191980
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6499832
Supporting Variants
Samples
Known GenesPPP1R13B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18179548
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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