A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14282768



Internal ID22122147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:8076196..8087103hg38UCSC Ensembl
Outerchr9:8076196..8087103hg19UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg3810908
hg1910908
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226487
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14282768
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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