A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059187



Internal ID18801718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46561965..46632257hg38UCSC Ensembl
Innerchr21:47981878..48052169hg19UCSC Ensembl
Innerchr21:46806306..46876597hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3870293
hg1970292
hg1870292
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4443n100
Supporting Variantsnssv3600320
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)nsv1059187
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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