A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227047



Internal ID22369658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:32932769..32946550hg38UCSC Ensembl
Outerchr3:32974261..32988042hg19UCSC Ensembl
Cytoband3p22.3
Allele length
AssemblyAllele length
hg383834
hg193834
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271357, nssv14271359, nssv14271356, nssv14271361, nssv14271355, nssv14271362, nssv14271363, nssv14271360, nssv14271358
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227047
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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