A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058184



Internal ID19147403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13826925..13930991hg38UCSC Ensembl
Innerchr21:15199246..15303312hg19UCSC Ensembl
Innerchr21:14121117..14225183hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38104067
hg19104067
hg18104067
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3732605
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)nsv1058184
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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