A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060336



Internal ID18802867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:17364904..17763918hg38UCSC Ensembl
Innerchr21:18737223..19136235hg19UCSC Ensembl
Innerchr21:17659094..18058106hg18UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg38399015
hg19399013
hg18399013
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4391n100
Supporting Variantsnssv3599675
Samples
Known GenesBTG3, C21orf37, CXADR
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060336
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer