A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14358799



Internal ID22196842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:9309528..9309528hg38UCSC Ensembl
chr11:9331075..9331075hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3559823
Supporting Variants
SamplesHG00731
Known GenesTMEM41B
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)nssv14358799
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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