A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212464



Internal ID22359707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:9050188..9088547hg38UCSC Ensembl
chr21:9889021..9927380hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg3838360
hg1938360
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14299226, nssv14299224, nssv14299225, nssv14299230, nssv14299227, nssv14299231, nssv14299223, nssv14299229, nssv14299228
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesTEKT4P2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212464
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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