A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511817



Internal ID15504556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:152603064..152605020hg38UCSC Ensembl
Outerchr2:153459578..153461534hg19UCSC Ensembl
Outerchr2:153167824..153169780hg18UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg381957
hg191957
hg181957
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626470
Samples1
Known GenesFMNL2
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511817
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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