A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17242174



Internal ID21689683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:127044277..127044277hg38UCSC Ensembl
chr5:126379969..126379969hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg386018
hg196018
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5729219
Supporting Variants
Samples
Known GenesC5orf63
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)nssv17242174
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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