A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17240432



Internal ID21687941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:146026150..146026150hg38UCSC Ensembl
chr5:145405713..145405713hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38662
hg19662
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5728421
Supporting Variants
Samples
Known GenesSH3RF2
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)nssv17240432
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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