A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044925



Internal ID19134144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:113970471..113992840hg38UCSC Ensembl
Innerchr12:114408276..114430645hg19UCSC Ensembl
Innerchr12:112892659..112915028hg18UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg3822370
hg1922370
hg1822370
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3524947
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1044925
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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