A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998043



Internal ID18810893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:9494638..9828584hg38UCSC Ensembl
Innerchr4:9496282..9830208hg19UCSC Ensembl
Innerchr4:9105380..9439306hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38333947
hg19333927
hg18333927
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5108n100
Supporting Variantsnssv3613413
Samples
Known GenesDRD5, MIR548I2, SLC2A9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998043
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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