A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277655



Internal ID22137381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:157765588..157774936hg38UCSC Ensembl
Outerchr6:158186620..158195968hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg381175
hg191175
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217938
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277655
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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