A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060043



Internal ID18802574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46561965..46628175hg38UCSC Ensembl
Innerchr21:47981878..48048087hg19UCSC Ensembl
Innerchr21:46806306..46872515hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3866211
hg1966210
hg1866210
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4443n100
Supporting Variantsnssv3600313, nssv3600312
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)nsv1060043
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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