A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513274



Internal ID15852696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:173461615..173464159hg38UCSC Ensembl
Outerchr5:172888618..172891162hg19UCSC Ensembl
Outerchr5:172821224..172823768hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg382545
hg192545
hg182545
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626782
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)nsv513274
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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