A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599127



Internal ID16386536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:99490514..99505495hg38UCSC Ensembl
Innerchr5:98826218..98841199hg19UCSC Ensembl
Innerchr5:98854117..98869098hg18UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg3814982
hg1914982
hg1814982
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9965n54
Supporting Variantsnssv1039545
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599127
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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