A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3238301



Internal ID22374115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:124409997..124441694hg38UCSC Ensembl
Outerchr12:124894543..124926240hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381964
hg191964
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256970, nssv14256965, nssv14256969, nssv14256967, nssv14256968, nssv14256972, nssv14256971, nssv14256973, nssv14256966
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesNCOR2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3238301
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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