A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1038533



Internal ID18781064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:1974559..2000280hg38UCSC Ensembl
Innerchr12:2083725..2109446hg19UCSC Ensembl
Innerchr12:1953986..1979707hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3825722
hg1925722
hg1825722
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3510178
Samples
Known GenesDCP1B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1038533
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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