A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281933



Internal ID22186905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:229993960..230003109hg38UCSC Ensembl
Outerchr1:230129707..230138856hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg389150
hg199150
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3190901
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281933
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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