A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196992



Internal ID22346919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:113486185..113486528hg38UCSC Ensembl
chr3:113205032..113205375hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg38344
hg19344
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14308501, nssv14308500, nssv14308503, nssv14308504, nssv14308502
SamplesNA19238, NA19239, HG00731, HG00732, HG00513
Known GenesSPICE1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3196992
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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