A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3209158



Internal ID22357277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:212296930..212309327hg38UCSC Ensembl
Outerchr1:212470272..212482669hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg3812398
hg1912398
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277360, nssv14277357, nssv14277358, nssv14277363, nssv14277362, nssv14277364, nssv14277361, nssv14277359
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesPPP2R5A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3209158
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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