A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1037644



Internal ID18780175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:114135921..114330322hg38UCSC Ensembl
Innerchr13:114901396..115095797hg19UCSC Ensembl
Innerchr13:113919498..114113899hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38194402
hg19194402
hg18194402
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1745n100
Supporting Variantsnssv3525641
Samples
Known GenesCDC16, CHAMP1, UPF3A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1037644
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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