A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17742746



Internal ID166412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:141574190..141699381hg38UCSC Ensembl
chrX:140662309..140787537hg19UCSC Ensembl
CytobandXq27.2
Allele length
AssemblyAllele length
hg38125192
hg19125229
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6137958
Supporting Variants
Samples
Known GenesSPANXA1, SPANXA2, SPANXA2-OT1, SPANXD, SPANXE
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17742746
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0012576


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