A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242097



Internal ID22375168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:70545825..70561924hg38UCSC Ensembl
Outerchr15:70838164..70854263hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg381875
hg191875
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259066, nssv14259067
SamplesHG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3242097
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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