A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3208865



Internal ID22357033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:113386967..113399714hg38UCSC Ensembl
Outerchr2:114144544..114157291hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3812748
hg1912748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263746, nssv14263747, nssv14263740, nssv14263743, nssv14263748, nssv14263742, nssv14263741, nssv14263745, nssv14263744
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3208865
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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