A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14361475



Internal ID22129774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:124225061..124238520hg38UCSC Ensembl
chr11:124095766..124109221hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3813460
hg1913456
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217298
Supporting Variants
SamplesHG00513
Known GenesOR8G2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14361475
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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