A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3600327



Internal ID18551922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46566757..46677033hg38UCSC Ensembl
Innerchr21:47986670..48096945hg19UCSC Ensembl
Innerchr21:46811098..46921373hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38110277
hg19110276
hg18110276
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1055904
Supporting Variants
Samples
Known GenesDIP2A, PRMT2, S100B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3600327
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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