A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14305555



Internal ID22204133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:34034623..34034623hg38UCSC Ensembl
chr22:34430612..34430612hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3562132
Supporting Variants
SamplesHG00732
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14305555
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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