A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281492



Internal ID22220074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:125573770..125592929hg38UCSC Ensembl
Outerchr8:126586014..126605173hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3819160
hg1919160
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223541
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281492
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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