A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5424501



Internal ID203490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:132375241..132375592hg38UCSC Ensembl
chrX:131509269..131509620hg19UCSC Ensembl
CytobandXq26.2
Allele length
AssemblyAllele length
hg38352
hg19352
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17742369
Samples
Known GenesMBNL3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5424501
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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