A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256992



Internal ID22271584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:125313113..125322196hg38UCSC Ensembl
Outerchr12:125797659..125806742hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg383248
hg193248
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3248031
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256992
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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