A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5718914



Internal ID21745235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:47848698..47848698hg38UCSC Ensembl
chrX:47708097..47708097hg19UCSC Ensembl
CytobandXp11.23
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 Variantsnssv17203878, nssv17229644
Samples
Known GenesZNF81
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)nsv5718914
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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