A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5422043



Internal ID201098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:48769043..48773159hg38UCSC Ensembl
chrX:48627460..48631575hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg384117
hg194116
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17736874
Samples
Known GenesGLOD5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5422043
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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