A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059238



Internal ID19148457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:10458823..10775598hg38UCSC Ensembl
Innerchr21:10736859..11053634hg19UCSC Ensembl
Innerchr21:9758730..10075505hg18UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg38316776
hg19316776
hg18316776
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4354n100
Supporting Variantsnssv3732509, nssv3583749, nssv3732510, nssv3583752, nssv3583751, nssv3583750, nssv3583747, nssv3583748
Samples
Known GenesBAGE2, 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)nsv1059238
Frequency
Sample Size11257
Observed Gain6
Observed Loss2
Observed Complex0
Frequencyn/a


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