A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222038



Internal ID22366240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:88347709..88347863hg38UCSC Ensembl
chr13:88999964..89000118hg19UCSC Ensembl
Cytoband13q31.2
Allele length
AssemblyAllele length
hg38155
hg19155
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2367n152
Supporting Variantsnssv14370635, nssv14370632, nssv14370634, nssv14370637, nssv14370633, nssv14370636
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222038
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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