A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17742369



Internal ID166035
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 StatusS
Merged Variantsnsv5424501
Supporting Variants
Samples
Known GenesMBNL3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17742369
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000937


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