A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14368782



Internal ID22266039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:36994617..36994617hg38UCSC Ensembl
chr13:37568754..37568754hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38258
hg19258
Variant TypeCNV alu insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3559952
Supporting Variants
SamplesNA19238
Known GenesALG5
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)nssv14368782
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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