A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278954



Internal ID22270449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:147840609..147880669hg38UCSC Ensembl
Outerchr6:148161745..148201805hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg388455
hg198455
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224113
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278954
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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