A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17742729



Internal ID166395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:141231100..141534000hg38UCSC Ensembl
chrX:140325279..140622052hg19UCSC Ensembl
CytobandXq27.2
Allele length
AssemblyAllele length
hg38302901
hg19296774
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6139004
Supporting Variants
Samples
Known GenesSPANXA2-OT1, SPANXC
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17742729
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00125444


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