A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064442



Internal ID18806973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46634852..46677033hg38UCSC Ensembl
Innerchr21:48054764..48096945hg19UCSC Ensembl
Innerchr21:46879192..46921373hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3842182
hg1942182
hg1842182
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4449n100
Supporting Variantsnssv3600351, nssv3600350, nssv3600352
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)nsv1064442
Frequency
Sample Size29084
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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