A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513233



Internal ID15505969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:44794001..44797018hg38UCSC Ensembl
Outerchr5:44794103..44797120hg19UCSC Ensembl
Outerchr5:44829860..44832877hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg383018
hg193018
hg183018
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626737
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)nsv513233
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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