A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215506



Internal ID22361814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:231818307..231874626hg38UCSC Ensembl
Outerchr2:232683017..232739336hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg384584
hg194584
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266029, nssv14266220, nssv14266218, nssv14266221, nssv14266028, nssv14266026
SamplesHG00512, NA19239, HG00732, NA19240, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215506
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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