A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222319



Internal ID22366428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:11744663..11750004hg38UCSC Ensembl
chr16:11838519..11843860hg19UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg385342
hg195342
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14391162, nssv14379530, nssv14389623, nssv14385647, nssv14380591, nssv14380995, nssv14378798, nssv14383164, nssv14376384
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222319
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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