A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv683783



Internal ID15073749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:20977267..20996591hg38UCSC Ensembl
Innerchr22:21331556..21350880hg19UCSC Ensembl
Innerchr22:19661556..19680880hg18UCSC Ensembl
Innerchr22:19656110..19675434hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3819325
hg1919325
hg1819325
hg1719325
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520145
Supporting Variants
Samples
Known GenesAIFM3, LZTR1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv683783
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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