A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599202



Internal ID16386611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:104072655..104137088hg38UCSC Ensembl
Innerchr5:103408356..103472789hg19UCSC Ensembl
Innerchr5:103436255..103500688hg18UCSC Ensembl
Cytoband5q21.2
Allele length
AssemblyAllele length
hg3864434
hg1964434
hg1864434
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1039637
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599202
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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