A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002905



Internal ID18745437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:54227510..54249531hg38UCSC Ensembl
Innerchr4:55093677..55115698hg19UCSC Ensembl
Innerchr4:54788434..54810455hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3822022
hg1922022
hg1822022
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3625265
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)nsv1002905
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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