A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055208



Internal ID18797739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:10338676..10536363hg38UCSC Ensembl
Innerchr21:10976094..11173781hg19UCSC Ensembl
Innerchr21:9997965..10195652hg18UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg38197688
hg19197688
hg18197688
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4369n100
Supporting Variantsnssv3585105, nssv3585100, nssv3585102, nssv3585101, nssv3585104, nssv3585103
Samples
Known GenesBAGE, BAGE2, BAGE3, BAGE4, BAGE5, TPTE
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055208
Frequency
Sample Size29084
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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