A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511640



Internal ID15851065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:17290274..17293630hg38UCSC Ensembl
Outerchr22:17289291..17293968hg38UCSC Ensembl
Innerchr22:17771164..17774520hg19UCSC Ensembl
Outerchr22:17770181..17774858hg19UCSC Ensembl
Innerchr22:16151164..16154520hg18UCSC Ensembl
Outerchr22:16150181..16154858hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg384678
hg194678
hg184678
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626274
Samples1
Known Genes
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511640
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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