A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216971



Internal ID22362791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:190612387..190627962hg38UCSC Ensembl
Outerchr2:191477113..191492688hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg385987
hg195987
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266205, nssv14266206, nssv14266204
SamplesHG00512, HG00732, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216971
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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