A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259112



Internal ID22193236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:32600393..32642044hg38UCSC Ensembl
Outerchr15:32892594..32934245hg19UCSC Ensembl
Cytoband15q13.3
Allele length
AssemblyAllele length
hg3830396
hg1930396
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3237866
Supporting Variants
SamplesHG00731
Known GenesARHGAP11A, GOLGA8R, SCG5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259112
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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