A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511720



Internal ID15504459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:179637725..179639559hg38UCSC Ensembl
Outerchr1:179606860..179608694hg19UCSC Ensembl
Outerchr1:177873483..177875317hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg381835
hg191835
hg181835
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626362
Samples1
Known GenesTDRD5
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511720
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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