A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280920



Internal ID22215914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:32808632..32859335hg38UCSC Ensembl
Outerchr8:32666150..32716853hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg3850704
hg1950704
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226465
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280920
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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