A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17737907



Internal ID161573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:149499141..149694012hg38UCSC Ensembl
chrX:148580672..148775672hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38194872
hg19195001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5424778
Supporting Variants
Samples
Known GenesCXorf40A, HSFX1, HSFX2, IDS, LINC00893, MAGEA11, MAGEA9, MAGEA9B, TMEM185A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17737907
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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