A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266032



Internal ID22224113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:238397039..238422692hg38UCSC Ensembl
Outerchr2:239305680..239331333hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381277
hg191277
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218741
Supporting Variants
SamplesHG00733
Known GenesTRAF3IP1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266032
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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