A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5420193



Internal ID199304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:20464541..20468662hg38UCSC Ensembl
chrX:20482659..20486780hg19UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg384122
hg194122
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17739561
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5420193
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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