A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv491n223



Internal ID22803459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196788077..196926788hg38UCSC Ensembl
chr1:196757207..196895918hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38138712
hg19138712
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6326842, nsv6318635, nsv6318403
Samples
Known GenesCFHR1, CFHR3, CFHR4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv491n223
Frequency
Sample Size19652
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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