A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060740



Internal ID18803271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46561965..46630622hg38UCSC Ensembl
Innerchr21:47981878..48050534hg19UCSC Ensembl
Innerchr21:46806306..46874962hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3868658
hg1968657
hg1868657
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4443n100
Supporting Variantsnssv3600315, nssv3600316, nssv3600314, nssv3600319, nssv3600318, nssv3600317
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)nsv1060740
Frequency
Sample Size29084
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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