A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5731042



Internal ID21757363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:110043824..110043824hg38UCSC Ensembl
chrX:109287052..109287052hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg38624
hg19624
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17235156, nssv17239584
Samples
Known GenesTMEM164
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5731042
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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