A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063749



Internal ID19152968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:32732148..34047607hg38UCSC Ensembl
Innerchr16:32743469..33850074hg19UCSC Ensembl
Innerchr16:32650970..33757575hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg381315460
hg191106606
hg181106606
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2898n100
Supporting Variantsnssv3552000
Samples
Known GenesLOC390705, RNU6-76P, SLC6A10P, TP53TG3, TP53TG3B, TP53TG3C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1063749
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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