A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3527678



Internal ID22397065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:116289131..116289221hg38UCSC Ensembl
chr9:119051410..119051500hg19UCSC Ensembl
Cytoband9q33.1
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9729n152
Supporting Variantsnssv14349144, nssv14349141, nssv14349147, nssv14349146, nssv14349145, nssv14349142, nssv14349143
SamplesHG00512, NA19238, NA19239, NA19240, HG00733, HG00513, HG00514
Known GenesPAPPA
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3527678
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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