A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv662848



Internal ID15052814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18157533..19020595hg38UCSC Ensembl
Innerchr22:18640300..19008108hg19UCSC Ensembl
Innerchr22:17020300..17388108hg18UCSC Ensembl
Innerchr22:17014854..17382662hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38863063
hg19367809
hg18367809
hg17367809
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516997
Supporting Variants
Samples
Known GenesDGCR5, DGCR6, DGCR9, GGT3P, PRODH, USP18
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv662848
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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