A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222786



Internal ID22366756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:239701979..239742766hg38UCSC Ensembl
Outerchr2:240623673..240664460hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381122
hg191122
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5092n152
Supporting Variantsnssv14266523, nssv14266524, nssv14266034
SamplesNA19239, NA19240, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222786
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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