A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213297



Internal ID22360286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:80058215..80065779hg38UCSC Ensembl
Outerchr5:79354038..79361602hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3830029
hg1930029
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276331
SamplesHG00732
Known GenesTHBS4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213297
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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