A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599290



Internal ID16386699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:106062774..106233242hg38UCSC Ensembl
Innerchr5:105398475..105568943hg19UCSC Ensembl
Innerchr5:105426374..105596842hg18UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg38170469
hg19170469
hg18170469
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1039772
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599290
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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