A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14360379



Internal ID22269158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:14843251..14843774hg38UCSC Ensembl
chr12:14996185..14996708hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38524
hg19524
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3528161
Supporting Variants
SamplesNA19238
Known GenesART4
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14360379
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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