A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220530



Internal ID22365198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:120920679..120920771hg38UCSC Ensembl
chr11:120791388..120791480hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14361375, nssv14361374
SamplesHG00732, HG00733
Known GenesGRIK4
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220530
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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