A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599953



Internal ID16040676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:150126061..150152269hg38UCSC Ensembl
Innerchr5:149505624..149531832hg19UCSC Ensembl
Innerchr5:149485817..149512025hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3826209
hg1926209
hg1826209
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10113n54
Supporting Variantsnssv1043280
Samples
Known GenesPDGFRB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599953
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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