A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5730345



Internal ID21756666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:57485588..57485588hg38UCSC Ensembl
chrX:57512021..57512021hg19UCSC Ensembl
CytobandXp11.21
Allele length
AssemblyAllele length
hg38206
hg19206
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17203940
Samples
Known GenesFAAH2
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)nsv5730345
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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