A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218293



Internal ID22363681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:47427481..47440891hg38UCSC Ensembl
Outerchr3:47468971..47482381hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg382749
hg192749
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271402, nssv14271403, nssv14271408, nssv14271405, nssv14271406, nssv14271404, nssv14271407, nssv14271401
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesSCAP
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218293
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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