A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1021286



Internal ID19110503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:80548436..80580410hg38UCSC Ensembl
Innerchr5:79844255..79876229hg19UCSC Ensembl
Innerchr5:79880011..79911985hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3831975
hg1931975
hg1831975
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5705n100
Supporting Variantsnssv3639054, nssv3639068, nssv3639066, nssv3639061, nssv3639060, nssv3639064, nssv3639058, nssv3639059, nssv3639065, nssv3639063, nssv3639055, nssv3639056, nssv3639069, nssv3639062, nssv3639057, nssv3639067
Samples
Known GenesANKRD34B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1021286
Frequency
Sample Size11257
Observed Gain16
Observed Loss0
Observed Complex0
Frequencyn/a


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