A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226628



Internal ID22369364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:38799969..38817856hg38UCSC Ensembl
Outerchr12:39193771..39211658hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3817888
hg1917888
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255578, nssv14255579, nssv14255575, nssv14255576, nssv14255577, nssv14255574
SamplesHG00512, NA19238, HG00732, HG00733, HG00513, HG00514
Known GenesCPNE8
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226628
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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