A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5428863



Internal ID207721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:38047600..38178000hg38UCSC Ensembl
chrX:37906853..38037253hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg38130401
hg19130401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17736430
Samples
Known GenesSRPX, SYTL5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5428863
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