A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256489



Internal ID22221051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:55326352..55333804hg38UCSC Ensembl
Outerchr12:55720136..55727588hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg388192
hg198192
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3242746
Supporting Variants
SamplesHG00733
Known GenesOR6C3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256489
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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