A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599207



Internal ID16386616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:104311313..104374917hg38UCSC Ensembl
Innerchr5:103647014..103710618hg19UCSC Ensembl
Innerchr5:103674913..103738517hg18UCSC Ensembl
Cytoband5q21.2
Allele length
AssemblyAllele length
hg3863605
hg1963605
hg1863605
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9979n54
Supporting Variantsnssv1039644
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599207
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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