A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055240



Internal ID19144459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:18683769..18708054hg38UCSC Ensembl
Innerchr21:20056087..20080372hg19UCSC Ensembl
Innerchr21:18977958..19002243hg18UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg3824286
hg1924286
hg1824286
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4392n100
Supporting Variantsnssv3599695, nssv3599701, nssv3599697, nssv3599694, nssv3599699, nssv3599698, nssv3599700, nssv3599696, nssv3599702
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055240
Frequency
Sample Size11257
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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