A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219680



Internal ID22364629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:42585754..42585806hg38UCSC Ensembl
chr8:42440897..42440949hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9152n152
Supporting Variantsnssv14341647, nssv14341646
SamplesNA19238, NA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219680
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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