A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17437669



Internal ID22495539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:141851196..142041663hg38UCSC Ensembl
chrX:140938982..141129449hg19UCSC Ensembl
CytobandXq27.2
Allele length
AssemblyAllele length
hg38190468
hg19190468
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5882095
Supporting Variants
Samples
Known GenesMAGEC1, MAGEC3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17437669
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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