A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5724209



Internal ID21750530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:123909623..123909623hg38UCSC Ensembl
chrX:123043473..123043473hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17214770, nssv17204975
Samples
Known GenesXIAP
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)nsv5724209
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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