A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3244658



Internal ID22375922
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258561, nssv14258562
SamplesHG00512, HG00513
Known GenesGOLGA6L20, GOLGA6L9, UBE2Q2P2, UBE2Q2P3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3244658
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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