A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14299320



Internal ID22260812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:9916639..9920957hg38UCSC Ensembl
chr21:10394667..10398985hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg384319
hg194319
Variant TypeCNV duplication
Copy Number5
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211332
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14299320
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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