A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256030



Internal ID22117880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:113818358..113826103hg38UCSC Ensembl
Outerchr12:114256163..114263908hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg38475
hg19475
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3234302
Supporting Variants
SamplesHG00512
Known GenesRBM19
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256030
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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