A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255471



Internal ID22270418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:109648621..109667710hg38UCSC Ensembl
Outerchr12:110086426..110105515hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38807
hg19807
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3233765
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255471
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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