A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513255



Internal ID15852677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:109258891..109265530hg38UCSC Ensembl
Outerchr5:108594592..108601231hg19UCSC Ensembl
Outerchr5:108622491..108629130hg18UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg386640
hg196640
hg186640
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626761
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)nsv513255
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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