A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222254



Internal ID22366384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:137564223..137574838hg38UCSC Ensembl
Outerchr9:140458675..140469290hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3810616
hg1910616
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281961, nssv14281962, nssv14281958, nssv14281957, nssv14281956, nssv14281960, nssv14281963, nssv14281959
SamplesHG00512, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesDPH7
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222254
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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