A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255968



Internal ID22294774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:123245169..123253855hg38UCSC Ensembl
Outerchr12:123729716..123738402hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg382671
hg192671
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3242833
Supporting Variants
SamplesNA19240
Known GenesC12orf65
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255968
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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