A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3205565



Internal ID22354241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:204402853..204423229hg38UCSC Ensembl
Outerchr1:204371981..204392357hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3820377
hg1920377
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276036, nssv14276038, nssv14276034, nssv14276035, nssv14276037
SamplesNA19238, NA19239, NA19240, HG00513, HG00514
Known GenesPIK3C2B, PPP1R15B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3205565
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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