A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3234208



Internal ID22372962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:61187908..61211521hg38UCSC Ensembl
Outerchr11:60955380..60978993hg19UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg3838004
hg1938004
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255702, nssv14255701
SamplesHG00512, HG00514
Known GenesPGA3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3234208
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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