A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5875456



Internal ID22650413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:145245035..145400553hg38UCSC Ensembl
chrX:144326555..144482071hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg38155519
hg19155517
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17442583
Samples
Known GenesSPANXN1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5875456
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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