A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14374328



Internal ID22231300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:31820138..31823441hg38UCSC Ensembl
chr16:31831459..31834762hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg383304
hg193304
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216777
Supporting Variants
SamplesHG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14374328
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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