A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv626475



Internal ID15850008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:166702013..166709485hg38UCSC Ensembl
Outerchr2:167558523..167565995hg19UCSC Ensembl
Outerchr2:167266769..167274241hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg387473
hg197473
hg187473
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv511822
Supporting Variants
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)nssv626475
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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