A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242455



Internal ID22375283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:76617245..76629734hg38UCSC Ensembl
Outerchr11:76328289..76340778hg19UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg38301
hg19301
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255710
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3242455
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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