A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226779



Internal ID22369469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:158461275..158495896hg38UCSC Ensembl
Outerchr7:158253967..158288588hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg38658
hg19658
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280102
SamplesHG00731
Known GenesPTPRN2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226779
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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