A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14318482



Internal ID22328264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:244167872..244167872hg38UCSC Ensembl
chr1:244331174..244331174hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3561952
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)nssv14318482
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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