A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227375



Internal ID22369892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:59535267..59546791hg38UCSC Ensembl
Outerchr8:60447826..60459350hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3811525
hg1911525
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281595
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227375
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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