A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226407



Internal ID22369218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:126129676..126165335hg38UCSC Ensembl
Outerchr5:125465369..125501028hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg382542
hg192542
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7516n152
Supporting Variantsnssv14276856, nssv14276858, nssv14276859, nssv14276855, nssv14276853, nssv14276857, nssv14276854
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00733, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226407
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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