A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599476



Internal ID16040199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:115109326..115140077hg38UCSC Ensembl
Innerchr5:114445023..114475774hg19UCSC Ensembl
Innerchr5:114472922..114503673hg18UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg3830752
hg1930752
hg1830752
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153587
SamplesHGDP00356
Known GenesTRIM36
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599476
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer