A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3560076



Internal ID22428872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49366546..49366546hg38UCSC Ensembl
chr12:49760329..49760329hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14364748, nssv14364752, nssv14364750, nssv14364751, nssv14364749
SamplesNA19238, NA19239, NA19240, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3560076
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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