A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3240824



Internal ID22374794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:120429549..120479613hg38UCSC Ensembl
Outerchr12:120867352..120917416hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg382089
hg192089
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255962, nssv14255963, nssv14255960, nssv14255964, nssv14255965, nssv14255966, nssv14255961
SamplesHG00512, NA19239, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesCOX6A1, DYNLL1, GATC, SRSF9, TRIAP1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3240824
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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