A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3526941



Internal ID22396325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:46554265..46554317hg38UCSC Ensembl
chr3:46595755..46595807hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5959n152
Supporting Variantsnssv14306922, nssv14306917, nssv14306923, nssv14306921, nssv14306918, nssv14306919, nssv14306920
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00513, HG00514
Known GenesLRRC2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3526941
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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