A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv626278



Internal ID15503125
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 StatusS
Merged Variantsnsv511643
Supporting Variants
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)nssv626278
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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