A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034447



Internal ID19123669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:50159790..50273114hg38UCSC Ensembl
Innerchr5:49455624..49568948hg19UCSC Ensembl
Innerchr5:49491381..49604705hg18UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg38113325
hg19113325
hg18113325
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5663n100
Supporting Variantsnssv3642109, nssv3642108
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)nsv1034447
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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