A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262693



Internal ID22133966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:86212394..86219310hg38UCSC Ensembl
Outerchr1:86678077..86684993hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg386917
hg196917
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3194485
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262693
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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