A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053676



Internal ID18796207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:112332274..112553333hg38UCSC Ensembl
Innerchr13:112986588..113207647hg19UCSC Ensembl
Innerchr13:112034589..112255648hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38221060
hg19221060
hg18221060
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3525611
Samples
Known GenesSPACA7, TUBGCP3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1053676
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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