A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598107



Internal ID16385516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:50234807..50264656hg38UCSC Ensembl
Innerchr5:49530641..49560490hg19UCSC Ensembl
Innerchr5:49566398..49596247hg18UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg3829850
hg1929850
hg1829850
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1030162
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598107
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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