A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5723391



Internal ID21749712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:16762312..16762312hg38UCSC Ensembl
chrX:16780435..16780435hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg383771
hg193771
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17213362
Samples
Known GenesSYAP1
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5723391
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer