A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256026



Internal ID22117866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:109593741..109667710hg38UCSC Ensembl
Outerchr12:110031546..110105515hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg381249
hg191249
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3243957
Supporting Variants
SamplesHG00512
Known GenesMVK
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256026
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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