A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224843



Internal ID22368156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:177957549..177989157hg38UCSC Ensembl
Outerchr5:177384550..177416158hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg381166
hg191166
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7655n152
Supporting Variantsnssv14274611, nssv14274609, nssv14274610
SamplesNA19238, NA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224843
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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