A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3245754



Internal ID22376232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:90084661..90098202hg38UCSC Ensembl
Outerchr12:90478438..90491979hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg381250
hg191250
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1941n152
Supporting Variantsnssv14255945, nssv14255942, nssv14255943, nssv14255944, nssv14255941
SamplesNA19239, HG00732, NA19240, HG00733, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3245754
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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