A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17213362



Internal ID21660871
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 StatusS
Merged Variantsnsv5723391
Supporting Variants
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)nssv17213362
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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