A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000718



Internal ID19089935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68429069..68592208hg38UCSC Ensembl
Innerchr4:69294787..69457926hg19UCSC Ensembl
Innerchr4:68977382..69140521hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38163140
hg19163140
hg18163140
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5249n100
Supporting Variantsnssv3626921, nssv3626918, nssv3626922, nssv3626923, nssv3626924, nssv3626920, nssv3626917, nssv3626919
Samples
Known GenesTMPRSS11E, UGT2B17
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000718
Frequency
Sample Size11257
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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