A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17742650



Internal ID166316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:139415414..139441852hg38UCSC Ensembl
chrX:138497573..138524011hg19UCSC Ensembl
CytobandXq27.1
Allele length
AssemblyAllele length
hg3826439
hg1926439
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6138001
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17742650
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00062435


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