A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17742730



Internal ID166396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:141241381..141547040hg38UCSC Ensembl
chrX:140335514..140635103hg19UCSC Ensembl
CytobandXq27.2
Allele length
AssemblyAllele length
hg38305660
hg19299590
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5414521
Supporting Variants
Samples
Known GenesSPANXA2-OT1, SPANXC
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17742730
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00480669


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