A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064129



Internal ID19153348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:10544810..10775598hg38UCSC Ensembl
Innerchr21:10736859..10967647hg19UCSC Ensembl
Innerchr21:9758730..9989518hg18UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg38230789
hg19230789
hg18230789
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4351n100
Supporting Variantsnssv3583634, nssv3732474, nssv3583633
Samples
Known GenesTPTE
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064129
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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