A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5425967



Internal ID204915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:12976400..12976544hg38UCSC Ensembl
chrX:12994519..12994663hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38145
hg19145
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17739303
Samples
Known GenesTMSB4X
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5425967
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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