A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5417005



Internal ID196212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:31228124..31251041hg38UCSC Ensembl
chrX:31246241..31269158hg19UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg3822918
hg1922918
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17739842
Samples
Known GenesDMD
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5417005
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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