A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14375575



Internal ID22161280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:70519114..70519422hg38UCSC Ensembl
chr16:70553017..70553325hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38309
hg19309
Variant TypeCNV alu deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3522966
Supporting Variants
SamplesHG00514
Known GenesCOG4
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)nssv14375575
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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