A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227454



Internal ID22369947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:8766648..8782158hg38UCSC Ensembl
chr21:9655481..9670991hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg3815511
hg1915511
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14298527, nssv14298524, nssv14298526, nssv14298519, nssv14298522, nssv14298525, nssv14298523, nssv14298521, nssv14298520
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)nsv3227454
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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