A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17431636



Internal ID22489506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:147912049..147912108hg38UCSC Ensembl
chrX:146993567..146993626hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5884570
Supporting Variants
Samples
Known GenesFMR1, FMR1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17431636
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.04


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