A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv528n100



Internal ID22786615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196769481..196940503hg38UCSC Ensembl
chr1:196738611..196909633hg19UCSC Ensembl
chr1:195005234..195176256hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38171023
hg19171023
hg18171023
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1006852, nsv1001633, nsv1008807, nsv1005908, nsv1012118, nsv1008849, nsv1010429, nsv1003214, nsv1007142, nsv1011807, nsv1009472, nsv1011841, nsv1010288, nsv1006085, nsv1012525, nsv1006349, nsv1011814, nsv1009949, nsv1007967, nsv1012773, nsv1007147, nsv1001821, nsv1011169, nsv1014247, nsv1002063, nsv1009353, nsv1009770, nsv997733, nsv1006569, nsv1013698
Samples
Known GenesCFHR1, CFHR3, CFHR4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv528n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss47
Observed Complex0
Frequencyn/a


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