A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248765



Internal ID22377077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:68391012..68401959hg38UCSC Ensembl
Outerchr15:68683351..68694298hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg384299
hg194299
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259592, nssv14259588, nssv14259586, nssv14259591, nssv14259589, nssv14259590, nssv14259594, nssv14259587, nssv14259593
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesITGA11
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3248765
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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