A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv551n206



Internal ID22755855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:311774..636067hg38UCSC Ensembl
chrX:228441..596802hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38324294
hg19368362
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv5430517, nsv5425038
Samples
Known GenesGTPBP6, LINC00685, PPP2R3B, SHOX
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)dgv551n206
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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