A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5720135



Internal ID21746456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:106174452..106174452hg38UCSC Ensembl
chrX:105418445..105418445hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17229883, nssv17205559
Samples
Known GenesMUM1L1
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)nsv5720135
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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