A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216158



Internal ID22362249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:34986851..34991900hg38UCSC Ensembl
chr9:34986848..34991897hg19UCSC Ensembl
Cytoband9p13.3
Allele length
AssemblyAllele length
hg385050
hg195050
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9537n152
Supporting Variantsnssv14346392, nssv14346390, nssv14346389, nssv14346393, nssv14346394, nssv14346396, nssv14346391, nssv14346395, nssv14346388
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesDNAJB5, LOC101926900
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216158
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