A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5613478



Internal ID21561783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:24709091..24709091hg38UCSC Ensembl
chrX:24727208..24727208hg19UCSC Ensembl
CytobandXp22.11
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17166597
SamplesHG00731
Known GenesPOLA1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5613478
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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