A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058215



Internal ID19147434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18760915..19019471hg38UCSC Ensembl
Innerchr22:18748428..19006984hg19UCSC Ensembl
Innerchr22:17128428..17386984hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38258557
hg19258557
hg18258557
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4468n100
Supporting Variantsnssv3590508, nssv3590501, nssv3589369, nssv3731806, nssv3589383, nssv3589373, nssv3590507, nssv3731809, nssv3731803, nssv3589372, nssv3731805, nssv3590495, nssv3589385, nssv3589379, nssv3590509, nssv3589384, nssv3590504, nssv3731810, nssv3590498, nssv3590499, nssv3589376, nssv3590497, nssv3589370, nssv3589377, nssv3731804, nssv3589387, nssv3590503, nssv3589382, nssv3731808, nssv3590500, nssv3590506, nssv3589378, nssv3731807, nssv3590505, nssv3589380, nssv3589371, nssv3590502, nssv3589381, nssv3589375, nssv3590496, nssv3589374, nssv3589386
Samples
Known GenesDGCR5, DGCR6, DGCR9, GGT3P, PRODH
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1058215
Frequency
Sample Size11257
Observed Gain40
Observed Loss2
Observed Complex0
Frequencyn/a


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