A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14321259



Internal ID22226949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:32762472..32762472hg38UCSC Ensembl
chr5:32762578..32762578hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3563904
Supporting Variants
SamplesHG00733
Known GenesNPR3
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)nssv14321259
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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