A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722131



Internal ID21748452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:41037053..41037053hg38UCSC Ensembl
chr1:41502725..41502725hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg386013
hg196013
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17233430, nssv17249824
Samples
Known GenesSCMH1, SLFNL1-AS1
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)nsv5722131
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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