A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14301398



Internal ID22139769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:11717433..11724477hg38UCSC Ensembl
chr21:9714661..9721701hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg387045
hg197041
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225667
Supporting Variants
SamplesHG00513
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14301398
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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