A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224452



Internal ID22367880
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9140n152
Supporting Variantsnssv14278862
SamplesHG00513
Known GenesADAM3A, ADAM5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224452
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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