A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512628



Internal ID15505367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:10334208..10567327hg38UCSC Ensembl
Outerchr21:10945130..11178249hg19UCSC Ensembl
Outerchr21:9967001..10200120hg18UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg38233120
hg19233120
hg18233120
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625242
Samples1
Known GenesBAGE, BAGE2, BAGE3, BAGE4, BAGE5, TPTE
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512628
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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