A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230162



Internal ID22371776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:116811999..116812093hg38UCSC Ensembl
chr8:117824238..117824332hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9311n152
Supporting Variantsnssv14343461, nssv14343459, nssv14343462, nssv14343460
SamplesNA19238, HG00732, HG00733, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230162
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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