A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210424



Internal ID22358332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:56376486..56385761hg38UCSC Ensembl
chr16:56410398..56419673hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg389276
hg199276
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14390439, nssv14382381
SamplesHG00731, HG00733
Known GenesAMFR
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210424
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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