A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213383



Internal ID22360352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:106913661..106941990hg38UCSC Ensembl
Outerchr11:106784387..106812716hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg3828330
hg1928330
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254488, nssv14254489
SamplesHG00513, HG00514
Known GenesGUCY1A2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213383
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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