A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5420439



Internal ID199543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:583194..716555hg38UCSC Ensembl
chrX:543929..677290hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38133362
hg19133362
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17736060
Samples
Known GenesSHOX
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5420439
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer