A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048252



Internal ID18790783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:114258491..114313432hg38UCSC Ensembl
Innerchr13:115023966..115078907hg19UCSC Ensembl
Innerchr13:114042068..114097009hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3854942
hg1954942
hg1854942
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1748n100
Supporting Variantsnssv3713327
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)nsv1048252
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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