A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040322



Internal ID19129541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:114258491..114342910hg38UCSC Ensembl
Innerchr13:115023966..115108385hg19UCSC Ensembl
Innerchr13:114042068..114126487hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3884420
hg1984420
hg1884420
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1747n100
Supporting Variantsnssv3525668, nssv3525667, nssv3525666, nssv3525663, nssv3525664, nssv3525665
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)nsv1040322
Frequency
Sample Size11257
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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