A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14367161



Internal ID22258777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:115275864..115275931hg38UCSC Ensembl
chr12:115713669..115713736hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224340
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14367161
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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