A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3249751



Internal ID22377363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:49043930..49072946hg38UCSC Ensembl
Outerchr18:46570300..46599316hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg381043
hg191043
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261919, nssv14261917, nssv14261916, nssv14261915, nssv14261922, nssv14261921, nssv14261918, nssv14261920, nssv14261923
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesDYM, MIR4744
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3249751
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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