A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5882340



Internal ID22657317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:18609197..18609247hg38UCSC Ensembl
chrX:18627317..18627367hg19UCSC Ensembl
CytobandXp22.13
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17442388
Samples
Known GenesCDKL5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5882340
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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