A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220829



Internal ID22365416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49233496..49235221hg38UCSC Ensembl
chr12:49627279..49629004hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg381726
hg191726
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14364737, nssv14364736, nssv14364734, nssv14364741, nssv14364738, nssv14364739, nssv14364740, nssv14364735, nssv14364742
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)nsv3220829
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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