A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043111



Internal ID18785642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:114196790..114289175hg38UCSC Ensembl
Innerchr13:114962265..115054650hg19UCSC Ensembl
Innerchr13:113980367..114072752hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3892386
hg1992386
hg1892386
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3525646
Samples
Known GenesCDC16, UPF3A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1043111
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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