A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063344



Internal ID18805875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46624671..46677033hg38UCSC Ensembl
Innerchr21:48044583..48096945hg19UCSC Ensembl
Innerchr21:46869011..46921373hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3852363
hg1952363
hg1852363
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4448n100
Supporting Variantsnssv3600345
Samples
Known GenesPRMT2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1063344
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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