A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213005



Internal ID22360089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:181375273..181388581hg38UCSC Ensembl
Outerchr5:180802274..180815582hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3811707
hg1911707
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275291
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213005
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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