A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14300358



Internal ID22208110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:56672757..56679532hg38UCSC Ensembl
chr20:55247813..55254588hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg386776
hg196776
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210724
Supporting Variants
SamplesHG00732
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14300358
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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