A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256868



Internal ID22190587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113960779..113990347hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg3829569
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218574
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256868
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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