A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3245830



Internal ID22376257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:11238055..11279112hg38UCSC Ensembl
Outerchr11:11259602..11300659hg19UCSC Ensembl
Cytoband11p15.3
Allele length
AssemblyAllele length
hg386488
hg196488
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254002, nssv14254001, nssv14254000
SamplesNA19239, HG00732, NA19240
Known GenesGALNT18
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3245830
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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