A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511844



Internal ID15851269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:232467712..232468793hg38UCSC Ensembl
Outerchr2:233332422..233333503hg19UCSC Ensembl
Outerchr2:233040666..233041747hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg381082
hg191082
hg181082
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626501
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)nsv511844
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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