A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511834



Internal ID15851259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:207609723..207612376hg38UCSC Ensembl
Outerchr2:208474447..208477100hg19UCSC Ensembl
Outerchr2:208182692..208185345hg18UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg382654
hg192654
hg182654
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626490
Samples1
Known GenesMETTL21A
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511834
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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