A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17453604



Internal ID22511478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:30571256..30571305hg38UCSC Ensembl
chrX:30589373..30589422hg19UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5878914
Supporting Variants
Samples
Known GenesCXorf21
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17453604
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency1.00


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