A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv492n223



Internal ID22803460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196794612..196924144hg38UCSC Ensembl
chr1:196763742..196893274hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38129533
hg19129533
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6326343, nsv6325770
Samples
Known GenesCFHR1, CFHR4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv492n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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