A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053023



Internal ID18795554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:24866993..24916871hg38UCSC Ensembl
Innerchr13:25441131..25491009hg19UCSC Ensembl
Innerchr13:24339131..24389009hg18UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg3849879
hg1949879
hg1849879
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3523202
Samples
Known GenesCENPJ, RNF17
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1053023
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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