A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272248



Internal ID22122107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:112746445..112752171hg38UCSC Ensembl
Outerchr3:112465292..112471018hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg383155
hg193155
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210828
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272248
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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