A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243676



Internal ID22375642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:28425218..28506689hg38UCSC Ensembl
Outerchr15:28670364..28751835hg19UCSC Ensembl
Cytoband15q13.1
Allele length
AssemblyAllele length
hg386408
hg196408
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2864n152
Supporting Variantsnssv14258615, nssv14258614
SamplesNA19238, NA19239
Known GenesMIR4509-1, MIR4509-2, MIR4509-3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243676
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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