A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210944



Internal ID22358667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:158387780..158471195hg38UCSC Ensembl
Outerchr7:158180472..158263887hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg38665
hg19665
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280221, nssv14280220, nssv14280222
SamplesHG00512, NA19239, HG00732
Known GenesPTPRN2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210944
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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