A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041986



Internal ID18784517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:24870991..24986494hg38UCSC Ensembl
Innerchr13:25445129..25560632hg19UCSC Ensembl
Innerchr13:24343129..24458632hg18UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg38115504
hg19115504
hg18115504
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3523203
Samples
Known GenesCENPJ, RNF17, TPTE2P1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1041986
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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