A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17166471



Internal ID21483688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:147912049..147912049hg38UCSC Ensembl
chrX:146993567..146993567hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5613858
Supporting Variants
SamplesNA12329
Known GenesFMR1, FMR1-AS1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17166471
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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