A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14300297



Internal ID22163236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:55820562..55821004hg38UCSC Ensembl
chr20:54395618..54396060hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg38443
hg19443
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228951
Supporting Variants
SamplesHG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14300297
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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