A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066672



Internal ID18809203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18166204..19019471hg38UCSC Ensembl
Innerchr22:18648971..19006984hg19UCSC Ensembl
Innerchr22:17028971..17386984hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38853268
hg19358014
hg18358014
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4466n100
Supporting Variantsnssv3589352, nssv3589351, nssv3589350, nssv3589347, nssv3731801, nssv3589348, nssv3589349
Samples
Known GenesDGCR5, DGCR6, DGCR9, GGT3P, PRODH, USP18
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1066672
Frequency
Sample Size29084
Observed Gain6
Observed Loss1
Observed Complex0
Frequencyn/a


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