A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227888



Internal ID22370239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:81360177..81425836hg38UCSC Ensembl
Outerchr8:82272412..82338071hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg3865660
hg1965660
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14282227
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227888
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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