A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5547232



Internal ID321104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:31452243..31452280hg38UCSC Ensembl
chrX:31470360..31470397hg19UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17739850
Samples
Known GenesDMD
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5547232
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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