A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596824



Internal ID16037547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:1151046..1203322hg38UCSC Ensembl
Innerchr5:1151161..1203437hg19UCSC Ensembl
Innerchr5:1204161..1256437hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3852277
hg1952277
hg1852277
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1021574
Samples
Known GenesSLC6A19
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596824
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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