A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14300193



Internal ID22203157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:53482708..53483220hg38UCSC Ensembl
chr20:52099247..52099759hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg38513
hg19513
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215665
Supporting Variants
SamplesHG00732
Known GenesTSHZ2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14300193
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer