A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280983



Internal ID22263083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:90389197..90397867hg38UCSC Ensembl
Outerchr8:91401425..91410095hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg388671
hg198671
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219561
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280983
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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