A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279037



Internal ID22132027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:168634500..168669301hg38UCSC Ensembl
Outerchr6:169035180..169069841hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg381773
hg191773
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213034
Supporting Variants
SamplesHG00513
Known GenesSMOC2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279037
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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