A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217764



Internal ID22363321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:128790652..128817725hg38UCSC Ensembl
Outerchr7:128430706..128457779hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg38798
hg19798
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278019, nssv14278018, nssv14278017, nssv14278022, nssv14278020, nssv14278021
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00733
Known GenesCCDC136
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217764
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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