A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229760



Internal ID22371500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:158253761..158361910hg38UCSC Ensembl
Outerchr7:158046453..158154602hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg381200
hg191200
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8920n152
Supporting Variantsnssv14278711, nssv14278710
SamplesNA19238, NA19240
Known GenesPTPRN2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229760
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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