A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5424449



Internal ID203440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:140999381..141013381hg38UCSC Ensembl
chrX:140081546..140107557hg19UCSC Ensembl
CytobandXq27.1
Allele length
AssemblyAllele length
hg3814001
hg1926012
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17742714
Samples
Known GenesSPANXB1, SPANXB2, SPANXF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5424449
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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