A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255900



Internal ID22305463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:55379894..55408842hg38UCSC Ensembl
Outerchr12:55773678..55802626hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg385944
hg195944
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3235697
Supporting Variants
SamplesNA19240
Known GenesOR6C65
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255900
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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