A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280875



Internal ID22219921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:11373967..11390479hg38UCSC Ensembl
Outerchr8:11231476..11247988hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3816513
hg1916513
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3230321
Supporting Variants
SamplesHG00733
Known GenesC8orf12
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280875
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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