A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1067390



Internal ID19156609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:45528389..45573271hg38UCSC Ensembl
Innerchr21:46948303..46993185hg19UCSC Ensembl
Innerchr21:45772731..45817613hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3844883
hg1944883
hg1844883
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3600296
Samples
Known GenesSLC19A1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1067390
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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