A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv98n145



Internal ID22813114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196748999..196832286hg38UCSC Ensembl
chr1:196718129..196801416hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3883288
hg1983288
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3118255, nsv3112420, nsv3116772, nsv3117796, nsv3117471, nsv3110553, nsv3118048, nsv3114389
Samplessample322, sample65, sample379, sample196, sample123, sample222, sample361, sample202, sample88, sample58, sample157, sample287, sample364, sample197, sample187, sample331, sample166, sample236, sample321, sample268
Known GenesCFHR1, CFHR3
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)dgv98n145
Frequency
Sample Size467
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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