A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3600323



Internal ID18551918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46565742..46616312hg38UCSC Ensembl
Innerchr21:47985655..48036224hg19UCSC Ensembl
Innerchr21:46810083..46860652hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3850571
hg1950570
hg1850570
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1065227
Supporting Variants
Samples
Known GenesDIP2A, S100B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3600323
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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