A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212506



Internal ID22359732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:28362816..28403899hg38UCSC Ensembl
chr16:28374137..28415220hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3841084
hg1941084
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14392293, nssv14381606, nssv14386285, nssv14380471, nssv14386054, nssv14376553, nssv14380766, nssv14388174, nssv14389001
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesEIF3C, EIF3CL, MIR6862-1, MIR6862-2, NPIPB6
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212506
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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