A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223073



Internal ID22366951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:28823475..28830878hg38UCSC Ensembl
chr21:30195797..30203200hg19UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg387404
hg197404
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5500n152
Supporting Variantsnssv14301147, nssv14301148, nssv14301149
SamplesHG00512, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223073
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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