A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063626



Internal ID18806157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18897325..19052558hg38UCSC Ensembl
Innerchr22:18884838..19040071hg19UCSC Ensembl
Innerchr22:17264838..17420071hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38155234
hg19155234
hg18155234
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4474n100
Supporting Variantsnssv3587291
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)nsv1063626
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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