A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1067175



Internal ID18809706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18822569..19046938hg38UCSC Ensembl
Innerchr22:18810082..19034451hg19UCSC Ensembl
Innerchr22:17190082..17414451hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38224370
hg19224370
hg18224370
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3590535
Samples
Known GenesDGCR10, DGCR11, DGCR2, DGCR5, DGCR6, DGCR9, PRODH
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1067175
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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