A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230764



Internal ID22372023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:126870511..126886192hg38UCSC Ensembl
Outerchr9:129632790..129648471hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38879
hg19879
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14289631, nssv14289632, nssv14289634, nssv14289633, nssv14289630
SamplesHG00512, NA19238, NA19239, HG00732, HG00513
Known GenesZBTB34
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230764
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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