A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213623



Internal ID22360516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:59729640..59773254hg38UCSC Ensembl
chr8:60642199..60685813hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3843615
hg1943615
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9192n152
Supporting Variantsnssv14341584, nssv14341585
SamplesHG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213623
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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