A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3528859



Internal ID22398251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:48247011..48247464hg38UCSC Ensembl
chr16:48280922..48281375hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38454
hg19454
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14388105, nssv14377157, nssv14385980
SamplesHG00731, HG00732, HG00733
Known GenesLONP2, MIR548AE2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3528859
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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