A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060423



Internal ID19149642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:32102349..32612913hg38UCSC Ensembl
Innerchr16:32113670..32624234hg19UCSC Ensembl
Innerchr16:32021171..32531735hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38510565
hg19510565
hg18510565
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2836n100
Supporting Variantsnssv3550251
Samples
Known GenesHERC2P4, LOC390705, TP53TG3D
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060423
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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