A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259571



Internal ID22269282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:54828629..54851435hg38UCSC Ensembl
Outerchr15:55120827..55143633hg19UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg386114
hg196114
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3236494
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259571
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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