A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14383500



Internal ID22322996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:61511647..61511961hg38UCSC Ensembl
chr16:61545551..61545865hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV alu deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3187438
Supporting Variants
SamplesNA19240
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)nssv14383500
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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