A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248668



Internal ID22377047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:110167122..110184130hg38UCSC Ensembl
Outerchr12:110604927..110621935hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg381798
hg191798
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255473, nssv14255480, nssv14255475, nssv14255476, nssv14255474, nssv14255477, nssv14255478, nssv14255479, nssv14255472
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesIFT81
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3248668
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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