A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14299375



Internal ID22275926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:45802873..45802873hg38UCSC Ensembl
chr20:44431512..44431512hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3562044
Supporting Variants
SamplesNA19239
Known GenesDNTTIP1
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)nssv14299375
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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