A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196549



Internal ID22346536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:66275522..66280767hg38UCSC Ensembl
Outerchr2:66502654..66507899hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg385246
hg195246
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265494, nssv14265492, nssv14265491, nssv14265493
SamplesHG00512, HG00732, HG00733, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3196549
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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