A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513249



Internal ID15852671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:99009220..99011808hg38UCSC Ensembl
Outerchr5:98344924..98347512hg19UCSC Ensembl
Outerchr5:98372824..98375412hg18UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg382589
hg192589
hg182589
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv49n50
Supporting Variantsnssv626755
Samples1
Known Genes
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513249
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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