A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596920



Internal ID16037643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:3557557..3622143hg38UCSC Ensembl
Innerchr5:3557671..3622257hg19UCSC Ensembl
Innerchr5:3610671..3675257hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3864587
hg1964587
hg1864587
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152990
Samples1780862306_A
Known GenesIRX1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596920
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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