A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599128



Internal ID16386537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:99490852..99505551hg38UCSC Ensembl
Innerchr5:98826556..98841255hg19UCSC Ensembl
Innerchr5:98854455..98869154hg18UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg3814700
hg1914700
hg1814700
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9965n54
Supporting Variantsnssv1039547, nssv1039548, nssv1039546
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599128
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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