A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597259



Internal ID16384668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:14871791..14875759hg38UCSC Ensembl
Innerchr5:14871900..14875868hg19UCSC Ensembl
Innerchr5:14924900..14928868hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg383969
hg193969
hg183969
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1026061
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597259
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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