A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3238398



Internal ID22374140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:52096310..52131783hg38UCSC Ensembl
Outerchr13:52670446..52705919hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg381020
hg191020
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257415
SamplesHG00732
Known GenesNEK5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3238398
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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