A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221415



Internal ID22365811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:22051401..22061950hg38UCSC Ensembl
chr8:21908912..21919461hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3810550
hg1910550
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14340354, nssv14340349, nssv14340356, nssv14340353, nssv14340351, nssv14340355, nssv14340350, nssv14340357, nssv14340352
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesDMTN
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221415
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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