A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728676



Internal ID21754997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:16761601..16761601hg38UCSC Ensembl
chrX:16779724..16779724hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg383343
hg193343
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17239406
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)nsv5728676
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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