A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599123



Internal ID16386532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:99164961..99234005hg38UCSC Ensembl
Innerchr5:98500665..98569709hg19UCSC Ensembl
Innerchr5:98528565..98597609hg18UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg3869045
hg1969045
hg1869045
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9964n54
Supporting Variantsnssv1039542
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599123
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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