A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255960



Internal ID22117830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:120429549..120479613hg38UCSC Ensembl
Outerchr12:120867352..120917416hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg382089
hg192089
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3240824
Supporting Variants
SamplesHG00512
Known GenesCOX6A1, DYNLL1, GATC, SRSF9, TRIAP1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255960
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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