A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17737144



Internal ID160810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:104117033..104117110hg38UCSC Ensembl
chrX:103361724..103361801hg19UCSC Ensembl
CytobandXq22.2
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5424637
Supporting Variants
Samples
Known GenesSLC25A53
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17737144
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000624


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