A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599954



Internal ID16040677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:150126061..150155692hg38UCSC Ensembl
Innerchr5:149505624..149535255hg19UCSC Ensembl
Innerchr5:149485817..149515448hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3829632
hg1929632
hg1829632
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10113n54
Supporting Variantsnssv1043281
Samples
Known GenesPDGFRB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599954
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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