A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14336886



Internal ID22276519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:107072730..107072730hg38UCSC Ensembl
chr7:106713175..106713175hg19UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3564971
Supporting Variants
SamplesNA19239
Known GenesPRKAR2B
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)nssv14336886
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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