A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14299127



Internal ID22223547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:30813484..30813569hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg3886
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229175
Supporting Variants
SamplesHG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14299127
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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