A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257156



Internal ID22190892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:158980968..158996852hg38UCSC Ensembl
Outerchr1:158950758..158966642hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg3815885
hg1915885
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207947
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257156
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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