A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281545



Internal ID22199642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:987644..1034398hg38UCSC Ensembl
Outerchr8:937644..984398hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg3846755
hg1946755
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229079
Supporting Variants
SamplesHG00732
Known GenesERICH1-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281545
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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