A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17247664



Internal ID21695173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:113433456..113433456hg38UCSC Ensembl
chr3:113152303..113152303hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg386017
hg196017
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5726775
Supporting Variants
Samples
Known GenesWDR52, WDR52-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)nssv17247664
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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