A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512629



Internal ID15505368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:10394049..10431308hg38UCSC Ensembl
Outerchr21:11081149..11118408hg19UCSC Ensembl
Outerchr21:10103020..10140279hg18UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg3837260
hg1937260
hg1837260
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625244
Samples1
Known GenesBAGE, BAGE2, BAGE3, BAGE4, BAGE5
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512629
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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