A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17436729



Internal ID22494599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:18652456..18653754hg38UCSC Ensembl
chrX:18670576..18671874hg19UCSC Ensembl
CytobandXp22.13
Allele length
AssemblyAllele length
hg381299
hg191299
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5885388
Supporting Variants
Samples
Known GenesCDKL5, RS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17436729
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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