A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5426600



Internal ID205529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:120305090..120310544hg38UCSC Ensembl
chrX:119438945..119444399hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg385455
hg195455
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17737373
Samples
Known GenesTMEM255A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5426600
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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