A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065054



Internal ID19154273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:32069540..33086089hg38UCSC Ensembl
Innerchr16:32080861..33097410hg19UCSC Ensembl
Innerchr16:31988362..33004911hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg381016550
hg191016550
hg181016550
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2847n100
Supporting Variantsnssv3549350, nssv3549347, nssv3716243, nssv3549351, nssv3549349, nssv3549346, nssv3549352, nssv3549348
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)nsv1065054
Frequency
Sample Size11257
Observed Gain2
Observed Loss6
Observed Complex0
Frequencyn/a


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