A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217806



Internal ID22363352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:109352249..109364403hg38UCSC Ensembl
Outerchr5:108687950..108700104hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg38587
hg19587
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276334
SamplesHG00732
Known GenesPJA2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217806
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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