A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221987



Internal ID22366200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:1537655..1584205hg38UCSC Ensembl
Outerchr8:1485821..1532371hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg3846551
hg1946551
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278854
SamplesHG00513
Known GenesDLGAP2, LOC100507435
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221987
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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