A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728827



Internal ID21755148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:108458158..108458158hg38UCSC Ensembl
chrX:107701388..107701388hg19UCSC Ensembl
CytobandXq22.3
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 Variantsnssv17205577
Samples
Known GenesCOL4A5
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)nsv5728827
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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