A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223488



Internal ID22367242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:79392113..79392185hg38UCSC Ensembl
chr13:79966248..79966320hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2341n152
Supporting Variantsnssv14366919, nssv14366921, nssv14366918, nssv14366922, nssv14366920
SamplesHG00512, HG00731, HG00732, HG00513, HG00514
Known GenesRBM26
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223488
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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