A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14301006



Internal ID22223943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:57833771..57833982hg38UCSC Ensembl
chr20:56408827..56409038hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg38212
hg19212
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211801
Supporting Variants
SamplesHG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14301006
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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