A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4757423



Internal ID20533283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:147912040..147912040hg38UCSC Ensembl
chrX:146993558..146993558hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16285658
Samples
Known GenesFMR1, FMR1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4757423
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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