A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056448



Internal ID18798979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:10404321..10512961hg38UCSC Ensembl
Innerchr21:10999496..11108136hg19UCSC Ensembl
Innerchr21:10021367..10130007hg18UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg38108641
hg19108641
hg18108641
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4371n100
Supporting Variantsnssv3585116, nssv3585115, nssv3585114
Samples
Known GenesBAGE, BAGE2, BAGE3, BAGE4, BAGE5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056448
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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