A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255924



Internal ID22117820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:63283682..63311499hg38UCSC Ensembl
Outerchr12:63677462..63705279hg19UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg38683
hg19683
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3244018
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255924
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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