A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210624



Internal ID22358462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:162527571..162540069hg38UCSC Ensembl
Outerchr5:161954577..161967075hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg385352
hg195352
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276925, nssv14276927, nssv14276930, nssv14276928, nssv14276929, nssv14276926
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210624
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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