A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14299232



Internal ID22121055
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 Number50
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217329
Supporting Variants
SamplesHG00512
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14299232
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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