A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3206881



Internal ID22355359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:42988472..43002396hg38UCSC Ensembl
Outerchr6:42956210..42970134hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3813925
hg1913925
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276759
SamplesHG00513
Known GenesPPP2R5D
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3206881
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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