A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14249942



Internal ID21311933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46630476..46677045hg38UCSC Ensembl
Innerchr21:48050388..48096957hg19UCSC Ensembl
Innerchr21:46874816..46921385hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3846570
hg1946570
hg1848859
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169686
Supporting Variants
SamplesSNI_14
Known GenesPRMT2
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14249942
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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