A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv114n209



Internal ID22826189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196797760..196942884hg38UCSC Ensembl
chr1:196766890..196912014hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38145125
hg19145125
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv5877911, nsv5875302, nsv5883539, nsv5869255, nsv5881259
Samples
Known GenesCFHR1, CFHR4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)dgv114n209
Frequency
Sample Size914
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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