A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280906



Internal ID22263076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:24823446..24861393hg38UCSC Ensembl
Outerchr8:24680959..24718906hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg3837948
hg1937948
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215348
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280906
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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