A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512638



Internal ID15852063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:38217387..38220689hg38UCSC Ensembl
Outerchr21:39589309..39592611hg19UCSC Ensembl
Outerchr21:38511179..38514481hg18UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg383303
hg193303
hg183303
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625253
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)nsv512638
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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