A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259134



Internal ID22206566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:89750605..89776661hg38UCSC Ensembl
Outerchr15:90293836..90319892hg19UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg38861
hg19861
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3240401
Supporting Variants
SamplesHG00732
Known GenesMESP1, MESP2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259134
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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