A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063875



Internal ID18806406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18921128..19019471hg38UCSC Ensembl
Innerchr22:18908641..19006984hg19UCSC Ensembl
Innerchr22:17288641..17386984hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3898344
hg1998344
hg1898344
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4476n100
Supporting Variantsnssv3587334, nssv3587333, nssv3587332, nssv3587335, nssv3587331
Samples
Known GenesDGCR5, 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)nsv1063875
Frequency
Sample Size29084
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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