A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17742748



Internal ID166414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:141581000..141698500hg38UCSC Ensembl
chrX:140669121..140786657hg19UCSC Ensembl
CytobandXq27.2
Allele length
AssemblyAllele length
hg38117501
hg19117537
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5432616
Supporting Variants
Samples
Known GenesSPANXA1, SPANXA2, SPANXA2-OT1, SPANXD, SPANXE
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17742748
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00545188


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