A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278862



Internal ID22138423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:39337831..39538664hg38UCSC Ensembl
Outerchr8:39195350..39396183hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38200834
hg19200834
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224452
Supporting Variants
SamplesHG00513
Known GenesADAM3A, ADAM5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278862
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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