A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258888



Internal ID22256209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:91963831..91971549hg38UCSC Ensembl
Outerchr15:92507061..92514779hg19UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg38838
hg19838
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3242829
Supporting Variants
SamplesNA19238
Known GenesSLCO3A1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258888
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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