A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3234228



Internal ID22372969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:133751618..133765649hg38UCSC Ensembl
Outerchr9:136616740..136630771hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg38906
hg19906
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14289689, nssv14289691, nssv14289690, nssv14289692
SamplesNA19238, HG00731, HG00732, NA19240
Known GenesVAV2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3234228
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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