A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14364738



Internal ID22201275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49233496..49235221hg38UCSC Ensembl
chr12:49627279..49629004hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg381726
hg191726
Variant TypeCNV duplication
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220829
Supporting Variants
SamplesHG00732
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14364738
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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