A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3244085



Internal ID22375760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113161417..113178545hg38UCSC Ensembl
Outerchr13:113815731..113832859hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg381460
hg191460
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257370, nssv14257371, nssv14257372
SamplesHG00512, HG00731, HG00733
Known GenesPCID2, PROZ
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3244085
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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