A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056129



Internal ID18798660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:31960187..33690641hg38UCSC Ensembl
Innerchr16:31971508..33493108hg19UCSC Ensembl
Innerchr16:31879009..33400609hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg381730455
hg191521601
hg181521601
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2839n100
Supporting Variantsnssv3549173
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)nsv1056129
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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