A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3527133



Internal ID22396517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:115112624..115112734hg38UCSC Ensembl
chr12:115550429..115550539hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg38111
hg19111
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14367160, nssv14367158, nssv14367159
SamplesNA19238, HG00732, HG00513
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3527133
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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