A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1521n100



Internal ID20153137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:65772966..65810281hg38UCSC Ensembl
chr12:66166746..66204061hg19UCSC Ensembl
chr12:64453013..64490328hg18UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg3837316
hg1937316
hg1837316
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1035574, nsv1038057
Samples
Known GenesRPSAP52
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1521n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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