A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv544n100



Internal ID22786631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196814484..196940503hg38UCSC Ensembl
chr1:196783614..196909633hg19UCSC Ensembl
chr1:195050237..195176256hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38126020
hg19126020
hg18126020
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1002474, nsv999320, nsv1014749, nsv1014313, nsv997823, nsv1006575, nsv1002444, nsv1001033, nsv1008012, nsv999666, nsv1006495, nsv1011916, nsv1004428, nsv1013427, nsv1003463, nsv1007361, nsv1002250, nsv1000067, nsv1000639, nsv997711, nsv1014797, nsv1004826, nsv1007360, nsv1012853, nsv1011865, nsv1001258, nsv999283, nsv1010523, nsv1009802
Samples
Known GenesCFHR1, CFHR4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv544n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss55
Observed Complex0
Frequencyn/a


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