A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14301453



Internal ID22299094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:43652857..43653476hg38UCSC Ensembl
chr20:42281497..42282116hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38620
hg19620
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220452
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14301453
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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