A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5420729



Internal ID199824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:32714526..32721579hg38UCSC Ensembl
chrX:32732643..32739696hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg387054
hg197054
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17739918
Samples
Known GenesDMD
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5420729
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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