A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5875682



Internal ID22650640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:119359293..119441826hg38UCSC Ensembl
chrX:118493256..118575789hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg3882534
hg1982534
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17437108
Samples
Known GenesSLC25A43
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5875682
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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