A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17696018



Internal ID119684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:61654071..61654071hg38UCSC Ensembl
chr14:62120789..62120789hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5420460
Supporting Variants
Samples
Known GenesFLJ22447
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17696018
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.004061


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