A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14282841



Internal ID22141797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:20977546..21049341hg38UCSC Ensembl
Outerchr9:20977545..21049340hg19UCSC Ensembl
Cytoband9p21.3
Allele length
AssemblyAllele length
hg3871796
hg1971796
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224084
Supporting Variants
SamplesHG00513
Known GenesFOCAD, PTPLAD2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14282841
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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