A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17740654



Internal ID164320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:71519983..71525255hg38UCSC Ensembl
chrX:70739833..70745105hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg385273
hg195273
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5426554
Supporting Variants
Samples
Known GenesBCYRN1, TAF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17740654
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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