A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3237550



Internal ID22373902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:28404963..28506689hg38UCSC Ensembl
Outerchr15:28650109..28751835hg19UCSC Ensembl
Cytoband15q13.1
Allele length
AssemblyAllele length
hg3813755
hg1913755
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2864n152
Supporting Variantsnssv14259093, nssv14259092, nssv14259063
SamplesHG00731, HG00732, HG00513
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)nsv3237550
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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