A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv656059



Internal ID15046025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18890274..19039100hg38UCSC Ensembl
Innerchr22:18877787..19026613hg19UCSC Ensembl
Innerchr22:17257787..17406613hg18UCSC Ensembl
Innerchr22:17252341..17401167hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38148827
hg19148827
hg18148827
hg17148827
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516997
Supporting Variants
Samples
Known GenesDGCR10, DGCR2, DGCR5, DGCR6, DGCR9, PRODH
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv656059
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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