A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242124



Internal ID22375180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:137817683..137857266hg38UCSC Ensembl
Outerchr9:140712135..140751718hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg384455
hg194455
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9854n152
Supporting Variantsnssv14280795, nssv14280793, nssv14280796, nssv14280797, nssv14280792, nssv14280798, nssv14280794
SamplesHG00512, NA19238, NA19239, HG00732, HG00733, HG00513, HG00514
Known GenesEHMT1, MIR602
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3242124
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