A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513044



Internal ID15505780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:42988987..42990608hg38UCSC Ensembl
Outerchr3:43030479..43032100hg19UCSC Ensembl
Outerchr3:43005483..43007104hg18UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg381622
hg191622
hg181622
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626527
Samples1
Known GenesFAM198A
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513044
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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