A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1039815



Internal ID18782346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:109064624..109157600hg38UCSC Ensembl
Innerchr12:109502429..109595405hg19UCSC Ensembl
Innerchr12:107986812..108079788hg18UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg3892977
hg1992977
hg1892977
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1553n100
Supporting Variantsnssv3712600
Samples
Known GenesACACB, ALKBH2, UNG, USP30
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1039815
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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