A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224814



Internal ID22368133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:134596596..134610817hg38UCSC Ensembl
Outerchr2:135354166..135368387hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg381036
hg191036
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265048, nssv14265049, nssv14265044, nssv14265047, nssv14265043, nssv14265046, nssv14265045, nssv14265041, nssv14265042
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesTMEM163
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224814
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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