A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264858



Internal ID22293177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:158305986..158320652hg38UCSC Ensembl
Outerchr1:158275776..158290442hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg382216
hg192216
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226954
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264858
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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