A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv683418



Internal ID15073384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18159378..19004608hg38UCSC Ensembl
Innerchr22:18642145..18992121hg19UCSC Ensembl
Innerchr22:17022145..17372121hg18UCSC Ensembl
Innerchr22:17016699..17366675hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38845231
hg19349977
hg18349977
hg17349977
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516997
Supporting Variants
Samples
Known GenesDGCR5, DGCR6, GGT3P, PRODH, USP18
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv683418
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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