A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3234608



Internal ID22373082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:128929492..128931696hg38UCSC Ensembl
Outerchr11:128799387..128801591hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg381454
hg191454
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254991, nssv14254992
SamplesHG00732, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3234608
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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