A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217796



Internal ID22363345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:112441501..112449950hg38UCSC Ensembl
chr13:113095815..113104264hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg388450
hg198450
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2463n152
Supporting Variantsnssv14372031, nssv14372035, nssv14372030, nssv14372038, nssv14372034, nssv14372036, nssv14372033, nssv14372037, nssv14372032
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217796
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer