A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277132



Internal ID22129991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170494412..170523849hg38UCSC Ensembl
Outerchr6:170803500..170832937hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38921
hg19921
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223238
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277132
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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