A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599209



Internal ID16386618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:104333117..104376395hg38UCSC Ensembl
Innerchr5:103668818..103712096hg19UCSC Ensembl
Innerchr5:103696717..103739995hg18UCSC Ensembl
Cytoband5q21.2
Allele length
AssemblyAllele length
hg3843279
hg1943279
hg1843279
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1039645
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599209
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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