A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3234127



Internal ID22372942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:44535614..44554026hg38UCSC Ensembl
Outerchr11:44557164..44575576hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38722
hg19722
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253708, nssv14253707
SamplesNA19238, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3234127
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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