A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255465



Internal ID22255275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:108864710..108883812hg38UCSC Ensembl
Outerchr12:109258486..109277588hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg383048
hg193048
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3237079
Supporting Variants
SamplesNA19238
Known GenesDAO
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255465
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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