A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212899



Internal ID22360010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:180120645..180143722hg38UCSC Ensembl
Outerchr2:180985372..181008449hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg382115
hg192115
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265775, nssv14266004, nssv14266005
SamplesHG00512, NA19239, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212899
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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