A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3247852



Internal ID22376813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:63078084..63084267hg38UCSC Ensembl
Outerchr15:63370283..63376466hg19UCSC Ensembl
Cytoband15q22.2
Allele length
AssemblyAllele length
hg381035
hg191035
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258555, nssv14258556
SamplesHG00512, HG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3247852
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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