A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055287



Internal ID18797818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:38641811..38659757hg38UCSC Ensembl
Innerchr21:40013735..40031681hg19UCSC Ensembl
Innerchr21:38935605..38953551hg18UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg3817947
hg1917947
hg1817947
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4430n100
Supporting Variantsnssv3600198
Samples
Known GenesERG
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055287
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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