A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5427530



Internal ID206434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:149202856..149768033hg38UCSC Ensembl
chrX:148284386..148849694hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38565178
hg19565309
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17737897
Samples
Known GenesCXorf40A, HSFX1, HSFX2, IDS, LINC00893, MAGEA11, MAGEA9, MAGEA9B, TMEM185A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5427530
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