A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14363397



Internal ID22285113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51247073..51247073hg38UCSC Ensembl
chr12:51640857..51640857hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3559646
Supporting Variants
SamplesNA19239
Known GenesSMAGP
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)nssv14363397
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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