A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17243169



Internal ID21690678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:160555098..160555098hg38UCSC Ensembl
chr1:160524888..160524888hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg386017
hg196017
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5723235
Supporting Variants
Samples
Known GenesCD84
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)nssv17243169
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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