A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14363477



Internal ID22254668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53753804..53753916hg38UCSC Ensembl
chr12:54147588..54147700hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3527646
Supporting Variants
SamplesNA19238
Known GenesCISTR-ACT
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14363477
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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