A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1045534



Internal ID19134753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:115811356..115838468hg38UCSC Ensembl
Innerchr12:116249161..116276273hg19UCSC Ensembl
Innerchr12:114733544..114760656hg18UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg3827113
hg1927113
hg1827113
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1560n100
Supporting Variantsnssv3524958
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)nsv1045534
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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