A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227198



Internal ID22369765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:158224265..158370532hg38UCSC Ensembl
Outerchr7:158016957..158163224hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg385455
hg195455
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279510, nssv14279509
SamplesHG00512, HG00732
Known GenesPTPRN2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227198
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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