A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4767703



Internal ID20543563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:147992241..147992241hg38UCSC Ensembl
chrX:147073761..147073761hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg38597
hg19597
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16282403
Samples
Known GenesFMR1NB
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4767703
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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