A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280160



Internal ID22323583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:968757..1024696hg38UCSC Ensembl
Outerchr8:918757..974696hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg3855940
hg1955940
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211828
Supporting Variants
SamplesNA19240
Known GenesERICH1-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280160
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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