A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14359704



Internal ID22291576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:61377742..61377742hg38UCSC Ensembl
chr11:61145214..61145214hg19UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3559692
Supporting Variants
SamplesNA19240
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)nssv14359704
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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