A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14282773



Internal ID22120431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:23306844..23390298hg38UCSC Ensembl
Outerchr9:23306842..23390296hg19UCSC Ensembl
Cytoband9p21.3
Allele length
AssemblyAllele length
hg3883455
hg1983455
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221565
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14282773
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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