A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1045238



Internal ID18787769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:112530283..112723969hg38UCSC Ensembl
Innerchr13:113184597..113378283hg19UCSC Ensembl
Innerchr13:112232598..112426284hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38193687
hg19193687
hg18193687
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3525613
Samples
Known GenesATP11A, C13orf35, TUBGCP3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1045238
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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