A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512530



Internal ID15505269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:45235223..45236710hg38UCSC Ensembl
Outerchr18:42815188..42816675hg19UCSC Ensembl
Outerchr18:41069186..41070673hg18UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg381488
hg191488
hg181488
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625134
Samples1
Known GenesSLC14A2
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512530
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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