A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598261



Internal ID16385670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:60190941..60197935hg38UCSC Ensembl
Innerchr5:59486768..59493762hg19UCSC Ensembl
Innerchr5:59522525..59529519hg18UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg386995
hg196995
hg186995
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9801n54
Supporting Variantsnssv1033361
Samples
Known GenesPDE4D
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598261
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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