A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258876



Internal ID22300540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:89337610..89343719hg38UCSC Ensembl
Outerchr15:89880841..89886950hg19UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg381183
hg191183
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3246492
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258876
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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