A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213843



Internal ID22360656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:58391011..58393204hg38UCSC Ensembl
chr16:58424915..58427108hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg382194
hg192194
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14387249, nssv14392459, nssv14378681, nssv14390273, nssv14392508, nssv14383465, nssv14381092, nssv14377597, nssv14382057
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesGINS3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213843
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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