A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728736



Internal ID21755057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:129504581..129504581hg38UCSC Ensembl
chrX:128638558..128638558hg19UCSC Ensembl
CytobandXq25
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 Variantsnssv17205025, nssv17218113
Samples
Known GenesSMARCA1
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)nsv5728736
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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