A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228951



Internal ID22370961
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14300298, nssv14300299, nssv14300296, nssv14300297
SamplesHG00512, NA19238, HG00733, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228951
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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