A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236711



Internal ID22373671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:52115234..52139767hg38UCSC Ensembl
Outerchr13:52689370..52713903hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg382857
hg192857
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257416
SamplesHG00732
Known GenesNEK3, NEK5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236711
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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