A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17237431



Internal ID21684940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:50321913..50321913hg38UCSC Ensembl
chr2:50549051..50549051hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg386018
hg196018
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5716204
Supporting Variants
Samples
Known GenesNRXN1
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)nssv17237431
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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