A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065693



Internal ID18808224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:32047162..33086089hg38UCSC Ensembl
Innerchr16:32058483..33097410hg19UCSC Ensembl
Innerchr16:31965984..33004911hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg381038928
hg191038928
hg181038928
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2838n100
Supporting Variantsnssv3549268, nssv3549270, nssv3716225, nssv3549269
Samples
Known GenesHERC2P4, LOC390705, 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)nsv1065693
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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