A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5615013



Internal ID21563318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:18481371..18481371hg38UCSC Ensembl
chrX:18499491..18499491hg19UCSC Ensembl
CytobandXp22.13
Allele length
AssemblyAllele length
hg38150
hg19150
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17166558
SamplesHG03125
Known GenesCDKL5
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5615013
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer