A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728253



Internal ID21754574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:13908988..13908988hg38UCSC Ensembl
chrX:13927107..13927107hg19UCSC Ensembl
CytobandXp22.2
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 Variantsnssv17202242
Samples
Known GenesGPM6B
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)nsv5728253
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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