A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3563057



Internal ID22431799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:94460355..94460355hg38UCSC Ensembl
chr3:94179199..94179199hg19UCSC Ensembl
Cytoband3q11.2
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14308823, nssv14308825, nssv14308821, nssv14308820, nssv14308824, nssv14308822
SamplesHG00512, NA19238, HG00731, HG00732, NA19240, HG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3563057
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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