A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258647



Internal ID22256144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:33732161..33745213hg38UCSC Ensembl
Outerchr15:34024362..34037414hg19UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg386093
hg196093
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3238271
Supporting Variants
SamplesNA19238
Known GenesRYR3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258647
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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