A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5419126



Internal ID198273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:48231837..48367837hg38UCSC Ensembl
chrX:48091272..48227272hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38136001
hg19136001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17736834
Samples
Known GenesSSX1, SSX3, SSX9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5419126
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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