A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5725700



Internal ID21752021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:10942787..10942787hg38UCSC Ensembl
chr6:10943020..10943020hg19UCSC Ensembl
Cytoband6p24.2
Allele length
AssemblyAllele length
hg385327
hg195327
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17237838
Samples
Known GenesSYCP2L
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)nsv5725700
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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