A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5416182



Internal ID195419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:33103273..33104304hg38UCSC Ensembl
chrX:33121390..33122421hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg381032
hg191032
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17739945
Samples
Known GenesDMD
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5416182
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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