A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17442833



Internal ID22500703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:154406233..154406856hg38UCSC Ensembl
chrX:153634574..153635197hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38624
hg19624
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5886849
Supporting Variants
Samples
Known GenesDNASE1L1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17442833
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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