A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258562



Internal ID22132518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:82347037..82433261hg38UCSC Ensembl
Outerchr15:83015759..83101987hg19UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg3879633
hg1979633
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3244658
Supporting Variants
SamplesHG00513
Known GenesGOLGA6L20, GOLGA6L9, UBE2Q2P2, UBE2Q2P3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258562
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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