A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14343237



Internal ID22196646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:74964703..74965028hg38UCSC Ensembl
chr8:75876938..75877263hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg38326
hg19326
Variant TypeCNV alu deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3523455
Supporting Variants
SamplesHG00731
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUYB8 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14343237
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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