A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14380791



Internal ID22282281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:81642132..81646246hg38UCSC Ensembl
chr16:81675737..81679851hg19UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg384115
hg194115
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223569
Supporting Variants
SamplesNA19239
Known GenesCMIP
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14380791
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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