A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034318



Internal ID19123540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:50159790..50247003hg38UCSC Ensembl
Innerchr5:49455624..49542837hg19UCSC Ensembl
Innerchr5:49491381..49578594hg18UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg3887214
hg1987214
hg1887214
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5662n100
Supporting Variantsnssv3642082, nssv3642076, nssv3642077, nssv3642073, nssv3642081, nssv3642085, nssv3642083, nssv3642080, nssv3642086, nssv3642079, nssv3642084, nssv3642075, nssv3642078, nssv3642074
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)nsv1034318
Frequency
Sample Size11257
Observed Gain12
Observed Loss2
Observed Complex0
Frequencyn/a


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