A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17847144



Internal ID22030787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:64553841..64553841hg38UCSC Ensembl
chr14:65020559..65020559hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6258965
Supporting Variants
Samples
Known GenesPPP1R36
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17847144
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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