A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3187438



Internal ID22339725
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14383500, nssv14392233
SamplesNA19239, NA19240
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)nsv3187438
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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