A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17642750



Internal ID21834797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:147912051..147912051hg38UCSC Ensembl
chrX:146993569..146993569hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6052563
Supporting Variants
Samples
Known GenesFMR1, FMR1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17642750
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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