A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259122



Internal ID22227427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:26712155..26718961hg38UCSC Ensembl
Outerchr15:26957302..26964108hg19UCSC Ensembl
Cytoband15q12
Allele length
AssemblyAllele length
hg381094
hg191094
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3233046
Supporting Variants
SamplesHG00733
Known GenesGABRB3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259122
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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