A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057112



Internal ID18799643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:10348542..10512961hg38UCSC Ensembl
Innerchr21:10999496..11163915hg19UCSC Ensembl
Innerchr21:10021367..10185786hg18UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg38164420
hg19164420
hg18164420
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4369n100
Supporting Variantsnssv3585119
Samples
Known GenesBAGE, BAGE2, BAGE3, BAGE4, BAGE5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057112
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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