A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14299444



Internal ID22260768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:49325637..49325719hg38UCSC Ensembl
chr20:47942174..47942256hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229090
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14299444
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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