A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242879



Internal ID22375407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:71928217..71929795hg38UCSC Ensembl
Outerchr11:71639263..71640841hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38856
hg19856
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255707
SamplesHG00512
Known GenesLOC100133315, RNF121
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3242879
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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