A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229032



Internal ID22371014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:2125402..2148895hg38UCSC Ensembl
Outerchr5:2125516..2149009hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg384610
hg194610
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275118, nssv14275121, nssv14275124, nssv14275122, nssv14275117, nssv14275116, nssv14275119, nssv14275123, nssv14275120
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229032
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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