A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3541993



Internal ID22411080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:12810511..12810583hg38UCSC Ensembl
chr4:49168719..49168791hg19UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5644n152
Supporting Variantsnssv14302860, nssv14302858, nssv14302861, nssv14302857, nssv14302856, nssv14302859
SamplesHG00512, NA19239, HG00732, NA19240, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3541993
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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