A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6044983



Internal ID21954253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:147992327..147992327hg38UCSC Ensembl
chrX:147073847..147073847hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg38112
hg19112
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17648793
Samples
Known GenesFMR1NB
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6044983
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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