A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14299311



Internal ID22275938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:9907768..9912969hg38UCSC Ensembl
chr21:10385805..10390997hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg385202
hg195193
Variant TypeCNV duplication
Copy Number5
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213584
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14299311
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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