A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217329



Internal ID22363028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:9249965..9376972hg38UCSC Ensembl
chr21:10088798..10215805hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg38127008
hg19127008
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14299237, nssv14299236, nssv14299235, nssv14299238, nssv14299233, nssv14299239, nssv14299240, nssv14299232, nssv14299234
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)nsv3217329
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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