A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14299378



Internal ID22186083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:46124752..46125546hg38UCSC Ensembl
chr20:44753391..44754185hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38795
hg19795
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211577
Supporting Variants
SamplesHG00731
Known GenesCD40
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14299378
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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