A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3240305



Internal ID22374662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:33106502..33137532hg38UCSC Ensembl
Outerchr9:33106500..33137530hg19UCSC Ensembl
Cytoband9p21.1
Allele length
AssemblyAllele length
hg382041
hg192041
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14282931, nssv14282937, nssv14282935, nssv14282936, nssv14282934, nssv14282933, nssv14282932
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513
Known GenesB4GALT1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3240305
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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