A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230320



Internal ID22371879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:69926058..69926114hg38UCSC Ensembl
chr12:70319838..70319894hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14361940, nssv14361941, nssv14361942
SamplesNA19238, NA19239, NA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230320
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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