A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513264



Internal ID15852686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:137686790..137688288hg38UCSC Ensembl
Outerchr5:137022479..137023977hg19UCSC Ensembl
Outerchr5:137050378..137051876hg18UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626771
Samples1
Known GenesKLHL3
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513264
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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