A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv102n145



Internal ID22813118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196787125..196926860hg38UCSC Ensembl
chr1:196756255..196895990hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38139736
hg19139736
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3110221, nsv3112271, nsv3110485, nsv3114022
Samplessample101, sample421, sample41, sample21, sample174
Known GenesCFHR1, CFHR3, CFHR4
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)dgv102n145
Frequency
Sample Size467
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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