A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5723757



Internal ID21750078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:85346122..85346122hg38UCSC Ensembl
chrX:84601128..84601128hg19UCSC Ensembl
CytobandXq21.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17205340, nssv17221764
Samples
Known GenesPOF1B
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5723757
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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