A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054473



Internal ID19143692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:63545960..63711405hg38UCSC Ensembl
Innerchr12:63939740..64105185hg19UCSC Ensembl
Innerchr12:62226007..62391452hg18UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg38165446
hg19165446
hg18165446
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1516n100
Supporting Variantsnssv3712496, nssv3712495
Samples
Known GenesDPY19L2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054473
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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