A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5430986



Internal ID209778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:31241560..31241651hg38UCSC Ensembl
chrX:31259677..31259768hg19UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17739843
Samples
Known GenesDMD
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5430986
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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