A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3234530



Internal ID22373058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:117363287..117391359hg38UCSC Ensembl
Outerchr12:117801092..117829164hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg386176
hg196176
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256398, nssv14256397, nssv14256396, nssv14256399, nssv14255996, nssv14256400
SamplesNA19238, HG00731, HG00732, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3234530
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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