A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278712



Internal ID22132095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:158277171..158363238hg38UCSC Ensembl
Outerchr7:158069863..158155930hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg3819455
hg1919455
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227209
Supporting Variants
SamplesHG00513
Known GenesPTPRN2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278712
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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