A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3239096



Internal ID22374327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:71195093..71209466hg38UCSC Ensembl
Outerchr15:71487432..71501805hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg38782
hg19782
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259596, nssv14259597, nssv14259598, nssv14259595
SamplesHG00512, NA19238, NA19239, HG00732
Known GenesTHSD4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3239096
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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