A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060399



Internal ID19149618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13726951..13850539hg38UCSC Ensembl
Innerchr21:15099272..15222860hg19UCSC Ensembl
Innerchr21:14021143..14144731hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38123589
hg19123589
hg18123589
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3586451
Samples
Known GenesC21orf15
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060399
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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