A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511643



Internal ID15504382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23964127..23999356hg38UCSC Ensembl
Outerchr22:23961415..24000144hg38UCSC Ensembl
Innerchr22:24306314..24341550hg19UCSC Ensembl
Outerchr22:24303602..24342338hg19UCSC Ensembl
Innerchr22:22636314..22671550hg18UCSC Ensembl
Outerchr22:22633602..22672338hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3838730
hg1938737
hg1838737
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626278
Samples1
Known GenesDDT, DDTL, GSTT2, GSTTP1
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511643
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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