A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17740792



Internal ID164458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:75230239..75437910hg38UCSC Ensembl
chrX:74450074..74657745hg19UCSC Ensembl
CytobandXq13.3
Allele length
AssemblyAllele length
hg38207672
hg19207672
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5420611
Supporting Variants
Samples
Known GenesUPRT, ZDHHC15
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17740792
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00145742


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