A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008497



Internal ID18751028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:54249524..54261982hg38UCSC Ensembl
Innerchr4:55115691..55128149hg19UCSC Ensembl
Innerchr4:54810448..54822906hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3812459
hg1912459
hg1812459
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3625268, nssv3625267
Samples
Known GenesPDGFRA
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008497
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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