A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066253



Internal ID18808784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:32016645..33829351hg38UCSC Ensembl
Innerchr16:32027966..33631818hg19UCSC Ensembl
Innerchr16:31935467..33539319hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg381812707
hg191603853
hg181603853
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2839n100
Supporting Variantsnssv3549193, nssv3549192
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)nsv1066253
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