A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14307085



Internal ID22166019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:81858347..81858661hg38UCSC Ensembl
chr3:81907498..81907812hg19UCSC Ensembl
Cytoband3p12.2
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV alu deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3524645
Supporting Variants
SamplesHG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUYA5 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14307085
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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