A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064553



Internal ID18807084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:32069540..33952512hg38UCSC Ensembl
Innerchr16:32080861..33754979hg19UCSC Ensembl
Innerchr16:31988362..33662480hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg381882973
hg191674119
hg181674119
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2840n100
Supporting Variantsnssv3549363, nssv3549362
Samples
Known GenesHERC2P4, LOC390705, RNU6-76P, SLC6A10P, TP53TG3, TP53TG3B, TP53TG3C, TP53TG3D
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064553
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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