A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598262



Internal ID16385671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:60190941..60200348hg38UCSC Ensembl
Innerchr5:59486768..59496175hg19UCSC Ensembl
Innerchr5:59522525..59531932hg18UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg389408
hg199408
hg189408
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9801n54
Supporting Variantsnssv1033362, nssv1033363
Samples
Known GenesPDE4D
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598262
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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