A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3559750



Internal ID22428546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:41774642..41774642hg38UCSC Ensembl
chr12:42168444..42168444hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14363852, nssv14363850, nssv14363853, nssv14363851
SamplesNA19238, HG00732, NA19240, HG00513
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3559750
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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