A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17252243



Internal ID21699752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:16147758..16147758hg38UCSC Ensembl
chr11:16169304..16169304hg19UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg38500
hg19500
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5715575
Supporting Variants
Samples
Known GenesSOX6
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)nssv17252243
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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