A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv526946



Internal ID15454239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:17137252..17153160hg38UCSC Ensembl
Innerchr22:17618142..17634050hg19UCSC Ensembl
Innerchr22:15998142..16014050hg18UCSC Ensembl
Innerchr22:15992696..16008604hg17UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg3815909
hg1915909
hg1815909
hg1715909
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv703316
Samples
Known GenesCECR5
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv526946
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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